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Journal articles on the topic 'Infantile seizures'

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Author: Grafiati

Published: 10 December 2022

Last updated: 28 January 2023

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1

Marini, Carla, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, et al. "Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations." Neurology Genetics 3, no. 6 (December 2017): e206. http://dx.doi.org/10.1212/nxg.0000000000000206.

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Objective:To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations.Methods:Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel.Results:The mean age at seizure onset was 11 months. The mean follow-up of 11.3 years documented that 4 patients following an infantile phase of frequent seizures became seizure free; the mean age at seizure offset was 4.25 years. Epilepsy phenotypes comprised West syndrome in 2 patients, infantile-onset unspecified generalized epilepsy, myoclonic and photosensitive eyelid myoclonia epilepsy resembling Jeavons syndrome, Lennox-Gastaut syndrome, and focal epilepsy with prolonged occipital or clonic seizures in each and every one. Five patients had developmental delay prior to seizure onset evolving into severe intellectual disability with absent speech and autistic traits in one and stereotypic hand movements with impulse control disorder in another. The patient with Jeavons syndrome evolved into moderate intellectual disability. Mutations were de novo, 4 missense and 2 nonsense, 5 were novel, and 1 resulted from somatic mosaicism.Conclusions:KCNB1-related manifestations include a spectrum of infantile-onset generalized or focal seizures whose combination leads to early infantile epileptic encephalopathy including West, Lennox-Gastaut, and Jeavons syndromes. Long-term follow-up highlights that following a stormy phase, seizures subside or cease and treatment may be eased or withdrawn. Cognitive and motor functions are almost always delayed prior to seizure onset and evolve into severe, persistent impairment. Thus, KCNB1 mutations are associated with diffuse brain dysfunction combining seizures, motor, and cognitive impairment.

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2

Knezevic-Pogancev, Marija. "Ohtahara syndrome: Early infantile epileptic encephalopathy." Medical review 61, no. 11-12 (2008): 581–85. http://dx.doi.org/10.2298/mpns0812581k.

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DEFINITION Ohtahara syndrome (early infantile epileptic encephalopathy with suppression bursts), is the earliest developing form of epileptic encephalopathy. ETHIOLOGY It considered to be a result of static structural developing brain damage. CLINICAL PICTURE Variable seizures develop mostly within the first 10 days of life, but may occur during the first hour after delivery. The most frequently observed seizure type are epileptic spasms, which may be either generalized and symmetrical or lateralized. The tonic spasms may occur in clusters or singly, while awake and during sleep alike. The duration of spasms is up to 10 seconds, and the interval between spasms within cluster ranges from 9 to 15 seconds. In one third of cases, other seizure types include partial motor seizures or hemiconvulsions The disorder takes a progressively deteriorating course with increasing frequency of seizures and severe retardation of psychomotor development. DIAGNOSTIC WORKUP In the initial stage of Ohtahara syndrome, interictal EEG shows a pattern of suppression-burst with high-voltage paroxysmal discharges separated by prolonged periods of nearly flat tracing that last for up to 18 seconds. PROGNOSIS AND THREATMENT Half of the reported children having Ohtahara syndrome die in infancy. Anticonvulsant helps little in controlling the seizures and halting the deterioration of psychomotor development. Severe psychomotor retardation is the rule. With time, the disorder may evolve into West syndrome or partial epilepsy. Psychomotor development may be slightly better if the infants do not develop West and later Lennox-Gastaut syndrome.

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Shields, W. Donald. "Infantile Spasms: Little Seizures, BIG Consequences." Epilepsy Currents 6, no. 3 (May 2006): 63–69. http://dx.doi.org/10.1111/j.1535-7511.2006.00100.x.

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Infantile spasms is one of the “catastrophic childhood epilepsies” because of the difficulty in controlling seizures and the association with mental retardation. However, early recognition, a careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and to achieve a normal, or at least much improved, level of development. Thus, there is the opportunity to have an important impact in the lives of these unfortunate children and their families.

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4

Alsaleem, Mahdi, Vivien Carrion, Arie Weinstock, and Praveen Chandrasekharan. "Infantile refractory seizures due to de novo KCNT 1 mutation." BMJ Case Reports 12, no. 10 (October 2019): e231178. http://dx.doi.org/10.1136/bcr-2019-231178.

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We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant’s condition improved with the combination of traditional as well non-traditional antiepileptic therapy.

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5

Trevathan, Edwin. "Infantile Spasms and Lennox-Gastaut Syndrome." Journal of Child Neurology 17, no. 2_suppl (February 2002): 2S9–2S22. http://dx.doi.org/10.1177/08830738020170021201.

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Infantile spasms and Lennox-Gastaut syndrome are rare but are important to child neurologists because of the intractable nature of the seizures and the serious neurologic comorbidities. New antiepileptic drugs offer more alternatives for treating both infantile spasms and Lennox-Gastaut syndrome. Selected children with infantile spasms are candidates for epilepsy surgery. Vagus nerve stimulation, corpus callosotomy, and the ketogenic diet are all options for selected children with Lennox-Gastaut syndrome. The epidemiology, clinical manifestations of the seizures, electroencephalographic characteristics, prognosis, and treatment options are reviewed for infantile spasms and Lennox-Gastaut syndrome. Additional therapies are needed for both infantile spasms and Lennox-Gastaut syndrome as many children fail to achieve adequate seizure control in spite of newer treatments. (J Child Neurol 2002;17:2S9—2S22).

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6

Millichap, J. Gordon. "Benign Familial Infantile Seizures." Pediatric Neurology Briefs 19, no. 3 (March 1, 2005): 21. http://dx.doi.org/10.15844/pedneurbriefs-19-3-6.

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7

Vigevano, Federico. "Benign familial infantile seizures." Brain and Development 27, no. 3 (April 2005): 172–77. http://dx.doi.org/10.1016/j.braindev.2003.12.012.

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8

Nelson, Julie A., Scott Demarest, Jake Thomas, Elizabeth Juarez-Colunga, and Kelly G. Knupp. "Evolution of Infantile Spasms to Lennox-Gastaut Syndrome: What Is There to Know?" Journal of Child Neurology 36, no. 9 (March 25, 2021): 752–59. http://dx.doi.org/10.1177/08830738211000514.

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Objective: Children with infantile spasms may develop Lennox-Gastaut syndrome. The diagnostic criteria for Lennox-Gastaut syndrome are vague, and many experts use varying combinations of the following criteria for diagnosis: paroxysmal fast activity on electroencephalography (EEG), slow spike and wave on EEG, developmental delay, multiple seizure types, and nocturnal tonic seizures. Our objective was to determine the prevalence of Lennox-Gastaut syndrome in a high-risk cohort of children with a history of infantile spasms and the characteristics of infantile spasms that were associated with the diagnosis of Lennox-Gastaut syndrome. Methods: Children with infantile spasms who were diagnosed and treated at Children’s Hospital Colorado between 2012 and 2018 were included. Lennox-Gastaut syndrome was defined as having 3 of 5 of the following characteristics: paroxysmal fast activity, slow spike and wave, current developmental delay, multiple seizure types, or tonic seizures. Descriptive statistics were performed using median and interquartile range. Univariable analysis was performed with Pearson chi-square, Fisher exact, or the Kruskal-Wallis test. Results: Ninety-seven children met inclusion criteria, and 36% (35/97) met criteria for Lennox-Gastaut syndrome. Developmental delay and history of seizures prior to the onset of infantile spasms were identified as risk factors for the development of Lennox-Gastaut syndrome ( P = .003) as was poor response to first treatment for spasms ( P = .004). Children with an unknown etiology of infantile spasms were less likely to develop Lennox-Gastaut syndrome ( P = .019). Eighty percent (28/35) of the children who met Lennox-Gastaut syndrome criteria lacked a documented diagnosis. Conclusions: Thirty-six percent of children with infantile spasms met criteria for Lennox-Gastaut syndrome. Risk factors for development of Lennox-Gastaut syndrome were developmental delay and seizures prior to the onset of infantile spasms and poor response to first treatment for infantile spasms. Children with an unknown etiology of infantile spasms were less likely to develop Lennox-Gastaut syndrome. Eighty percent of the children who met our criteria were not given a documented diagnosis of Lennox-Gastaut syndrome, which highlights the fact that many children may not be receiving a diagnosis of Lennox-Gastaut syndrome. We recommend establishing clear guidelines for the diagnosis of Lennox-Gastaut syndrome to ensure that the diagnosis is being made accurately.

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9

N., Rajeshwari, Prahada J., and Savitha A. "Heterozygous SLC1A2 mutation in a child with early infantile seizures and global developmental delay." International Journal of Contemporary Pediatrics 9, no. 3 (February 23, 2022): 299. http://dx.doi.org/10.18203/2349-3291.ijcp20220460.

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Seizures are a major neurologic disorder in infants and children. It can affect children at any age, from birth through adolescence. Early onset of seizures at birth or in the first few months of life can cause severe cerebral dysfunction. Also, recurrent and persistent seizures lead to severe cognitive and behavioral impairment in children. Hence, control of seizures is crucial for optimal neurodevelopment. Genetic aetiology of seizures is suspected in early onset recurrent seizures below one year of age, refractory to multiple anticonvulsants. Genetic testing in children with recurrent and therapy resistant seizures provides clue to aetiology, helps in treatment, has prognostic value. It also helps to estimate risk of seizure recurrence and helps avoid unnecessary investigations. We hereby report a case of early onset recurrent seizures with global developmental delay. Next generation sequencing revealed heterozygous missense mutation in SLC1A2 gene which is identified as an epileptic encephalopathy (EE) associated gene.

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10

Millichap, J. Gordon. "Benign Infantile Seizures (Fukuyama Syndrome)." Pediatric Neurology Briefs 24, no. 5 (May 1, 2010): 35. http://dx.doi.org/10.15844/pedneurbriefs-24-5-3.

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11

Parsley, Lea K., and Janet A. Thomas. "The patient with infantile seizures." Current Opinion in Pediatrics 23, no. 6 (December 2011): 693–99. http://dx.doi.org/10.1097/mop.0b013e32834b930c.

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12

Nordli, Douglas R. "Infantile Seizures and Epilepsy Syndromes." Epilepsia 43 (June 27, 2002): 11–16. http://dx.doi.org/10.1046/j.1528-1157.43.s.3.4.x.

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13

Liang, Jao-Shwann, and Jyh-Feng Lu. "Peroxisomal disorders with infantile seizures." Brain and Development 33, no. 9 (October 2011): 777–82. http://dx.doi.org/10.1016/j.braindev.2011.02.004.

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14

Traub, Roger D., Friederike Moeller, Richard Rosch, Torsten Baldeweg, Miles A. Whittington, and Stephen P. Hall. "Seizure initiation in infantile spasms vs. focal seizures: proposed common cellular mechanisms." Reviews in the Neurosciences 31, no. 2 (January 28, 2020): 181–200. http://dx.doi.org/10.1515/revneuro-2019-0030.

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AbstractInfantile spasms (IS) and seizures with focal onset have different clinical expressions, even when electroencephalography (EEG) associated with IS has some degree of focality. Oddly, identical pathology (with, however, age-dependent expression) can lead to IS in one patient vs. focal seizures in another or even in the same, albeit older, patient. We therefore investigated whether the cellular mechanisms underlying seizure initiation are similar in the two instances: spasms vs. focal. We noted that in-common EEG features can include (i) a background of waves at alpha to delta frequencies; (ii) a period of flattening, lasting about a second or more – the electrodecrement (ED); and (iii) often an interval of very fast oscillations (VFO; ~70 Hz or faster) preceding, or at the beginning of, the ED. With IS, VFO temporally coincides with the motor spasm. What is different between the two conditions is this: with IS, the ED reverts to recurring slow waves, as occurring before the ED, whereas with focal seizures the ED instead evolves into an electrographic seizure, containing high-amplitude synchronized bursts, having superimposed VFO. We used in vitro data to help understand these patterns, as such data suggest cellular mechanisms for delta waves, for VFO, for seizure-related burst complexes containing VFO, and, more recently, for the ED. We propose a unifying mechanistic hypothesis – emphasizing the importance of brain pH – to explain the commonalities and differences of EEG signals in IS versus focal seizures.

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15

Kim, Hyun-Jin, Han Na Jang, Hyunji Ahn, Mi-Sun Yum, and Tae-Sung Ko. "Over 10-Year Outcomes of Infantile-Onset Epilepsies." Journal of Clinical Medicine 10, no. 3 (January 22, 2021): 430. http://dx.doi.org/10.3390/jcm10030430.

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Seizures in infancy have highly variable courses and underlying etiologies. However, there are only a few long-term follow-up studies regarding infantile-onset epilepsy. Therefore, we aimed to describe the clinical courses, seizure outcomes, and risk factors of infantile-onset epilepsy followed up for more than 10 years in a tertiary center. Methods: Data of the patients with epilepsy, diagnosed under the age of 12 months and followed up for more than 10 years, were retrieved from the electronic medical records of Asan Medical Center Children’s Hospital. The patients’ medical records were retrospectively reviewed, and clinical outcomes were assessed based on the duration of seizure freedom at the last follow-up. Results: Of the 146 patients, 103 (70.5%) entered at least one remission, of whom epilepsy was resolved in 46 (31.5%). Forty-nine (33.6%) were found to be intractable at last contact. Delayed development, neurological deficits, and later onset (>3 months) were significantly associated with intractable epilepsies (p < 0.01). Conclusions: This study demonstrated that many patients with infantile-onset epilepsy can experience seizure remission. However, in some cases, early onset epilepsy was highly associated with various comorbidities and intractable seizures. Therefore, appropriate diagnosis and treatment are necessary to prevent further neuropsychiatric complications.

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Iwasaki, Masaki, Mitsugu Uematsu, Yuko Sato, Tojo Nakayama, Kazuhiro Haginoya, Shin-ichiro Osawa, Hisashi Itabashi, Kazutaka Jin, Nobukazu Nakasato, and Teiji Tominaga. "Complete remission of seizures after corpus callosotomy." Journal of Neurosurgery: Pediatrics 10, no. 1 (July 2012): 7–13. http://dx.doi.org/10.3171/2012.3.peds11544.

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Object Corpus callosotomy is usually intended to alleviate—not to achieve total control of—epileptic seizures. A few patients experience complete seizure control after callosotomy, but the associated clinical factors are unknown. The object of this study was to investigate clinical factors associated with long-term seizure remission after total corpus callosotomy in patients with infantile or early childhood onset epilepsy. Methods Thirteen consecutive patients with infantile or early childhood onset epilepsy underwent 1-stage total corpus callosotomy for alleviation of seizures. Their age at surgery ranged from 1 year and 5 months to 24 years (median 7 years). Eleven patients had West syndrome at the onset of disease, and the other 2 had Lennox-Gastaut syndrome. All patients suffered from spasms, axial tonic seizures, or atonic seizures. Six patients had proven etiology of epilepsy, including tuberous sclerosis, polymicrogyria, trauma, and Smith-Magenis syndrome. The association between postoperative seizure freedom and preoperative factors including age at surgery, no MRI abnormalities, proven etiology, and focal electroencephalographic epileptiform discharges was examined. Results Postoperative seizure freedom was achieved in 4 of 13 patients for a minimum of 12 months. All 4 patients had no MRI abnormalities and no identified etiology. None of the 8 patients with MRI abnormality, 6 patients with known etiology of epilepsy, or 4 patients aged older than 10 years at surgery achieved seizure freedom. Two of the 7 patients with focal electroencephalographic abnormalities became seizure free. Absence of MRI abnormalities was significantly associated with postoperative seizure freedom (p < 0.01). Conclusions Complete seizure remission is achieved after total corpus callosotomy in a subgroup of patients with intractable epilepsy following West syndrome or Lennox-Gastaut syndrome. One-stage total corpus callosotomy at a young age may provide a higher rate of seizure freedom, especially for patients with no MRI abnormalities and no identified etiology of epilepsy.

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17

van der Poest Clement, Emma A., Mustafa Sahin, and Jurriaan M. Peters. "Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex." Journal of Child Neurology 33, no. 8 (April 24, 2018): 519–24. http://dx.doi.org/10.1177/0883073818768309.

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Vigabatrin is recommended as first-line treatment for infantile spasms in tuberous sclerosis complex (TSC), but other indications in children with tuberous sclerosis complex are less known. We retrospectively reviewed 201 children with tuberous sclerosis complex, and identified 21 children older than 1 year started on vigabatrin for any indication and with sufficient follow-up data. The indication for vigabatrin was epileptic spasms (n = 13), tonic seizures (n = 5), both (n = 2), and status epilepticus (n = 1). Mean age of treatment onset was 4.0 years (range 1.1-18.3). All but 1 patient had a reduction in seizures. Ten patients became seizure free and 4 had an improvement of >90%. In 9 patients, vigabatrin was tapered successfully after 8 to 33 months. Side effects reported included rash (n = 1) and behavioral decline (n = 1). No retinal toxicity was detected in 14 of 21 patients with adequate ophthalmologic surveillance data. In conclusion, vigabatrin may be an effective treatment for epileptic spasms and tonic seizures beyond the infantile age.

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18

Yoshioka, Mieko, Shigekazu Kuroki, Ken-ichiro Kobayashi, Megumu Saito, and Shigeo Matsumoto. "Infantile Spasms Associated with Partial Seizures." Journal of the Japan Epilepsy Society 18, no. 3 (2000): 212–19. http://dx.doi.org/10.3805/jjes.18.212.

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19

Donat, Jane F., and Francis S. Wright. "Simultaneous Infantile Spasms and Partial Seizures." Journal of Child Neurology 6, no. 3 (July 1991): 246–50. http://dx.doi.org/10.1177/088307389100600308.

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20

Carrazana, Enrique J., John K. Barlow, and Gregory L. Holmes. "Infantile spasms provoked by partial seizures." Journal of Epilepsy 3, no. 2 (January 1990): 97–100. http://dx.doi.org/10.1016/0896-6974(90)90157-t.

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21

Specchio, Nicola, and Federico Vigevano. "The spectrum of benign infantile seizures." Epilepsy Research 70 (August 2006): 156–67. http://dx.doi.org/10.1016/j.eplepsyres.2006.01.018.

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22

Tanabe, Takuya, Keita Hara, Mitsuru Kashiwagi, and Hiroshi Tamai. "Classification of benign infantile afebrile seizures." Epilepsy Research 70 (August 2006): 185–89. http://dx.doi.org/10.1016/j.eplepsyres.2006.02.007.

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23

Espeche, A. "Benign infantile seizures: A prospective study." Epilepsy Research 89, no. 1 (March 2010): 96–103. http://dx.doi.org/10.1016/j.eplepsyres.2009.10.017.

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24

Yamamoto, Naoki, Kazuyoshi Watanabe, Tamiko Negoro, Sunao Furune, Izumi Takahashi, Kazushi Nomura, and Akiko Matsumoto. "Partial Seizures Evolving to Infantile Spasms." Epilepsia 29, no. 1 (February 1988): 34–40. http://dx.doi.org/10.1111/j.1528-1157.1988.tb05095.x.

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25

Velez, Alberto, Olivier Dulac, and Perrine Plouin. "Prognosis for seizure control in infantile spasms preceded by other seizures." Brain and Development 12, no. 3 (January 1990): 306–9. http://dx.doi.org/10.1016/s0387-7604(12)80311-1.

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26

ALVAREZ, LUIS A., SHLOMO SHINNAR, and SOLOMON L. MOSHÉ. "Infantile Spasms Due to Unilateral Cerebral Infarcts." Pediatrics 79, no. 6 (June 1, 1987): 1024–26. http://dx.doi.org/10.1542/peds.79.6.1024.

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Infantile spasms are an age-specific seizure disorder that occur in infants with no known underlying disorder or prior neurologic insult (cryptogenic group) as well as in infants with a variety of genetic disorders or known prior neurologic insult (symptomatic group).1-8 The presence of infantile spasms is associated with a high incidence of developmental retardation (87%)3 even in previously normal infants.3,5-7 Although there are many contradictory studies, it is generally believed that the infants in the symptomatic group, especially those with abnormal findings on neurologic examination prior to the onset of the seizures, have a significantly higher incidence of mental retardation and epilepsy than the infants in the cryptogenic group.1-9

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Bueckert, AM, J. Pugh, T. Snyder, M. Wheatley, F. Jacob, and B. Sinclair. "Surgical and seizure outcome in children with DNETs who underwent epilepsy surgery." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 42, S1 (May 2015): S22. http://dx.doi.org/10.1017/cjn.2015.113.

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Background: Dysembryoblastic neuroepithelial tumors (DNETs) are benign tumors of the cerebral cortex that most commonly occur in children or young adults. Seizures are a frequent presenting feature, with an incidence of 80-100%, and are often an indication for surgical resection. Methods: We performed a retrospective chart review of children with DNETs who underwent epilepsy surgery between 1998 and 2014. Results: A total of 12 subjects were identified (6 males, 6 females), all of whom had seizures prior to surgical resection. Of these patients, 1 had infantile spasms, 2 had simple partial seizures and 10 had complex partial seizures. Tumors were located in the temporal (n=7), frontal (n=3) or parietal (n=2) cortex. These patients went on to have surgery on average 15 months after seizure onset, 3 had incomplete resections. At an average follow up of 6 years 4 months, all patients were class 1 on Engel’s Classification. All but one subject with rare non-disabling seizures were seizure free, with only 6 on medication. Follow up MR imaging revealed tumor recurrence in 1 subject. Conclusions: Despite differing seizure seminology and tumor location, surgical resection of these low-grade tumors resulted in excellent seizure outcome even in the setting of incomplete tumor resection.

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Kodama, Kazuo, Taku Omata, Yoshimi Watanabe, Hiromi Aoyama, and Yuzo Tanabe. "Potassium Bromide in the Treatment of Pediatric Refractory Epilepsy." Journal of Child Neurology 34, no. 10 (May 21, 2019): 582–85. http://dx.doi.org/10.1177/0883073819847862.

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Objective: We evaluated potassium bromide’s (KBr’s) efficacy and tolerability for pediatric refractory epilepsy. Methods: We retrospectively reviewed the records of 42 patients treated with KBr in our hospital between 2008 and 2016 (age: 4 months to 19 years; mean: 6.2 years). Thirteen of them had 2 seizure types. The treatment durations ranged from 1 month to 6 years (mean: 15.0 months). Results: KBr had an excellent effect (seizure-free status) in 3 patients (7.1%), a moderate effect (>50% reduction in seizure frequency from the pretreatment baseline) in 21 patients (50.0%), and no effect (<50% reduction in seizure frequency from the pretreatment baseline) in 18 patients (42.9%). The effective daily doses ranged from 20 to 80 mg/kg (mean: 50.0 mg/kg). KBr was effective in 59.1% patients with generalized epilepsy (n = 22), 55.6% patients with focal epilepsy (n = 18), and both patients with Dravet syndrome. An excellent or moderate effect was found in 72.2% patients with tonic seizures (n = 18), 66.6% patients with generalized tonic-clonic seizures (n = 6), 75.0% patients with secondary generalized seizures (n = 4), 46.2% patients with focal seizures (n = 13), and 20% patients with infantile spasms (n = 10) but no patients with myoclonic seizures (n = 2). Adverse effects including drowsiness, excitement, and rashes were reported in 13 patients (31.0%). Conclusions: These findings suggest that KBr is particularly effective for tonic seizures, generalized tonic-clonic seizures, and secondary generalized seizures. Although the adverse effects need further attention, KBr should be considered for pediatric refractory epilepsy.

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Kanuparthi, Poojitha, Sahana Kaup Sathish Rao, and Prakash R. M. Saldanha. "Clinicoetiological profile of infantile onset seizure disorder at a tertiary care hospital." International Journal of Contemporary Pediatrics 7, no. 12 (November 24, 2020): 2276. http://dx.doi.org/10.18203/2349-3291.ijcp20204947.

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Background: Current study was conducted with the objective to identify the type of seizures in infants and to know the underlying etiological factors and to know the presence of co-morbidities.Methods: Hospital based retrospective study of 35 children conducted from January 2018 to January 2020. Files of children who were diagnosed with infantile onset seizures during that period were retrieved and analyzed.Results: Out of the 35 children with seizures, generalized tonic clonic seizures was the commonest type of seizures 20 (57%), followed by simple partial and myoclonic seizures in 20% and 11.4% respectively. Structural causes were the commonest identifiable cause of seizures. Developmental delay was the most common co-morbidity followed by visual impairment.Conclusions: Seizures in children less than 2 years is a potentially preventable entity, likely to be amenable to better perinatal care, early identification and management of seizures. Commonly associated co-morbidity with seizures was developmental delay that requires close followup and early intervention.

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Watanabe, Kazuyoshi, Naoki Yamamoto, Tamiko Negoro, Izumi Takahashi, Kozaburo Aso, and Mitsuo Maehara. "Benign Infantile Epilepsy with Complex Partial Seizures." Journal of Clinical Neurophysiology 7, no. 3 (July 1990): 409–16. http://dx.doi.org/10.1097/00004691-199007000-00006.

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Fusilli, G., G. Merico, R. Gurrado, T. Rosa, A. Acquafredda, and L. Cavallo. "Propranolol for infantile haemangiomas and neuroglycopenic seizures." Acta Paediatrica 99, no. 12 (September 9, 2010): 1756. http://dx.doi.org/10.1111/j.1651-2227.2010.01990.x.

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Chang, Chin-Jung, Hsueh-Wen Chang, Wen-Neng Chang, Li-Tung Huang, Song-Chei Huang, Ying-Chao Chang, Pi-Lien Hung, et al. "Seizures complicating infantile and childhood bacterial meningitis." Pediatric Neurology 31, no. 3 (September 2004): 165–71. http://dx.doi.org/10.1016/j.pediatrneurol.2004.03.009.

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33

M. Korff, Christian, and Douglas R. Nordli. "The clinical-electrographic expression of infantile seizures." Epilepsy Research 70 (August 2006): 116–31. http://dx.doi.org/10.1016/j.eplepsyres.2005.11.016.

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Carrazana, Enrique J., Cesare T. Lombroso, Mohamad Mikati, Sandra Helmers, and Gregory L. Holmes. "Facilitation of Infantile Spasms by Partial Seizures." Epilepsia 34, no. 1 (January 1993): 97–109. http://dx.doi.org/10.1111/j.1528-1157.1993.tb02381.x.

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35

Sheth, Raj D., and John B. Bodensteiner. "Infantile masturbation mimicking seizures: A video demonstration." Pediatric Neurology 11, no. 2 (September 1994): 105. http://dx.doi.org/10.1016/0887-8994(94)90221-6.

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36

Gold, Ira, and Max Koenigsberg. "Infantile seizures caused by voluntary water intoxication." American Journal of Emergency Medicine 4, no. 1 (January 1986): 21–23. http://dx.doi.org/10.1016/0735-6757(86)90244-5.

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Uttl, Libor, Tomáš Hložek, Pavel Mareš, Tomáš Páleníček, and Hana Kubová. "Anticonvulsive Effects and Pharmacokinetic Profile of Cannabidiol (CBD) in the Pentylenetetrazol (PTZ) or N-Methyl-D-Aspartate (NMDA) Models of Seizures in Infantile Rats." International Journal of Molecular Sciences 23, no. 1 (December 22, 2021): 94. http://dx.doi.org/10.3390/ijms23010094.

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In spite of use of cannabidiol (CBD), a non-psychoactive cannabinoid, in pediatric patients with epilepsy, preclinical studies on its effects in immature animals are very limited. In the present study we investigated anti-seizure activity of CBD (10 and 60 mg/kg administered intraperitoneally) in two models of chemically induced seizures in infantile (12-days old) rats. Seizures were induced either with pentylenetetrazol (PTZ) or N-methyl-D-aspartate (NMDA). In parallel, brain and plasma levels of CBD and possible motor adverse effects were assessed in the righting reflex and the bar holding tests. CBD was ineffective against NMDA-induced seizures, but in a dose 60 mg/kg abolished the tonic phase of PTZ-induced generalized seizures. Plasma and brain levels of CBD were determined up to 24 h after administration. Peak CBD levels in the brain (996 ± 128 and 5689 ± 150 ng/g after the 10- and 60-mg/kg doses, respectively) were reached 1–2 h after administration and were still detectable 24 h later (120 ± 12 and 904 ± 63 ng/g, respectively). None of the doses negatively affected motor performance within 1 h after administration, but CBD in both doses blocked improvement in the bar holding test with repeated exposure to this task. Taken together, anti-seizure activity of CBD in infantile animals is dose and model dependent, and at therapeutic doses CBD does not cause motor impairment. The potential risk of CBD for motor learning seen in repeated motor tests has to be further examined.

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Saini, Arushi, and Kollencheri Vinayan. "Status Epilepticus in Neonates." International Journal of Epilepsy 05, no. 01 (April 2018): 002–8. http://dx.doi.org/10.1055/s-0038-1667213.

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AbstractSeizures are a reflection of acute brain injury in the neonatal period, and status epilepticus reflects a state of high seizure burden. Neonatal status epilepticus has been reported in 8 to 43% of newborns with seizures. There is no separate definition for neonatal status epilepticus, and it has been commonly defined as a continuous seizure lasting at least 30 minutes and/or a series of seizures whose total duration exceeds 50% of a given epoch. The causes of status epilepticus in the neonatal period mirror the causes of neonatal seizures. It is symptomatic, usually associated with hypoxic–ischemic encephalopathy, inherited metabolic disorders, infections, and cerebral hemorrhage. Management guidelines are not separately outlined for neonatal status epilepticus and are commonly derived from the recommendations for neonatal and infantile seizures. The presence of neonatal status epilepticus significantly increases the odds for development of cerebral palsy, global developmental delay, and epilepsy later in life. Further research is needed into the role of current antiepileptic drugs in causing neuronal injury and use of neuroprotective agents during neonatal status epilepticus.

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Vlaskamp, Danique R. M., Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, et al. "SYNGAP1 encephalopathy." Neurology 92, no. 2 (December 12, 2018): e96-e107. http://dx.doi.org/10.1212/wnl.0000000000006729.

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ObjectiveTo delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort.MethodsPatients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos.ResultsWe included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n = 5) or atonic (n = 8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences, and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic encephalopathy (DEE). Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypotonia (67%); sleeping problems (62%); autism spectrum disorder (54%); and ataxia or gait abnormalities (51%).ConclusionsSYNGAP1 mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures, as well as a predilection to seizures triggered by eating.

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Myers, Kenneth A., Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, et al. "Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder." Neurology Genetics 7, no. 2 (March 18, 2021): e579. http://dx.doi.org/10.1212/nxg.0000000000000579.

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ObjectiveTo describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and microcephaly, sleep disturbance, and ataxia.MethodsWe performed phenotyping on patients with MBD5 deletions, duplications, or point mutations and a history of seizures.ResultsTwenty-three patients with MAND and seizures were included. Median seizure onset age was 2.9 years (range 3 days–13 years). The most common seizure type was generalized tonic-clonic; focal, atypical absence, tonic, drop attacks, and myoclonic seizures occurred frequently. Seven children had convulsive status epilepticus and 3 nonconvulsive status epilepticus. Fever, viral illnesses, and hot weather provoked seizures. EEG studies in 17/21 patients were abnormal, typically showing slow generalized spike-wave and background slowing. Nine had drug-resistant epilepsy, although 3 eventually became seizure-free. All but one had moderate-to-severe developmental impairment. Epilepsy syndromes included Lennox-Gastaut syndrome, myoclonic-atonic epilepsy, and infantile spasms syndrome. Behavioral problems in 20/23 included aggression, self-injurious behavior, and sleep disturbance.ConclusionsMBD5 disruption may be associated with severe early childhood-onset developmental and epileptic encephalopathy. Because neuropsychiatric dysfunction is common and severe, it should be an important focus of clinical management.

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Yu, Yeon Hee, Seong-Wook Kim, Hyuna Im, Yejin Song, Seo Jeong Kim, Yu Ran Lee, Gun Woo Kim, Changmin Hwang, Dae-Kyoon Park, and Duk-Soo Kim. "Febrile Seizures Cause Depression and Anxiogenic Behaviors in Rats." Cells 11, no. 20 (October 14, 2022): 3228. http://dx.doi.org/10.3390/cells11203228.

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Febrile seizure (FS) is a common type of seizure occurring in human during infancy and childhood. Although an epileptic seizure is associated with psychiatric disorders and comorbid diseases such as depression, anxiety, autism spectrum disorders, sleep disorders, attention deficits, cognitive impairment, and migraine, the causal relationship between FS and psychiatric disorders is poorly understood. The objective of the current study was to investigate the relationship of FS occurrence in childhood with the pathogenesis of anxiety disorder and depression using an FS rat model. We induced febrile seizures in infantile rats (11 days postnatal) using a mercury vapor lamp. At 3 weeks and 12 weeks after FS induction, we examined behaviors and recorded local field potentials (LFPs) to assess anxiety and depression disorder. Interestingly, after FS induction in infantile rats, anxiogenic behaviors and depression-like phenotypes were found in both adult and juvenile FS rats. The analysis of LFPs revealed that 4–7 Hz hippocampal theta rhythm, a neural oscillatory marker for anxiety disorder, was significantly increased in FS rats compared with their wild-type littermates. Taken together, our findings suggest that FS occurrence in infants is causally related to increased levels of anxiety-related behaviors and depression-like symptoms in juvenile and adult rodents.

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Berecki, Géza, Katherine B. Howell, Yadeesha H. Deerasooriya, Maria Roberta Cilio, Megan K. Oliva, David Kaplan, Ingrid E. Scheffer, Samuel F. Berkovic, and Steven Petrou. "Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy." Proceedings of the National Academy of Sciences 115, no. 24 (May 29, 2018): E5516—E5525. http://dx.doi.org/10.1073/pnas.1800077115.

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De novo variants in SCN2A developmental and epileptic encephalopathy (DEE) show distinctive genotype–phenotype correlations. The two most recurrent SCN2A variants in DEE, R1882Q and R853Q, are associated with different ages and seizure types at onset. R1882Q presents on day 1 of life with focal seizures, while infantile spasms is the dominant seizure type seen in R853Q cases, presenting at a median age of 8 months. Voltage clamp, which characterizes the functional properties of ion channels, predicted gain-of-function for R1882Q and loss-of-function for R853Q. Dynamic action potential clamp, that we implement here as a method for modeling neurophysiological consequences of a given epilepsy variant, predicted that the R1882Q variant would cause a dramatic increase in firing, whereas the R853Q variant would cause a marked reduction in action potential firing. Dynamic clamp was also able to functionally separate the L1563V variant, seen in benign familial neonatal–infantile seizures from R1882Q, seen in DEE, suggesting a diagnostic potential for this type of analysis. Overall, the study shows a strong correlation between clinical phenotype, SCN2A genotype, and functional modeling. Dynamic clamp is well positioned to impact our understanding of pathomechanisms and for development of disease mechanism-targeted therapies in genetic epilepsy.

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Nogovitsyn, V. Yu, and Yu Bobylova. "Benign infantile seizures associated with mild gastroenteritis : clinical and electroencephalographic characteristics." Russian Journal of Child Neurology 14, no. 2 (July 28, 2019): 53–59. http://dx.doi.org/10.17650/2073-8803-2019-14-2-53-59.

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Benign infantile seizures associated with mild gastroenteritis are a special type of situationally determined seizures in infants. Usually, clinical manifestations are observed between 4 month and 3 years of age, most commonly during the second year of life. Vomiting and diarrhea are the key symptoms, although their severity may vary. Other typical signs include multiple serial seizures (focal, secondarily generalized) over several days accompanying enteric infection (caused by rotavirus, norovirus, rarely sapoviruses, adenovirus, or Coxsackie virus), no changes in the interictal electroencephalogram, and favorable prognosis. Differential diagnosis should include neuroinfections, fluid and electrolyte disorders, epilepsy, and febrile seizures. Examination should include analysis of blood and cerebrospinal fluid and electroencephalography. The majority of patients have normal interictal electroencephalogram. The authors present own observations.

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Scala, Judith L., and Cathy Y. Poon. "Anticonvulsant Therapy in Children: An Update." Journal of Pharmacy Practice 9, no. 1 (February 1996): 27–41. http://dx.doi.org/10.1177/089719009600900104.

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Over the years, extensive research has led to the development of a new generation of anticonvulsant medications for the treatment of patients with intractable seizure disorders. Currently three new drugs have been approved in the United States since 1993, and many others have entered into the later stages of development. The purpose of this article is to discuss the pharmacology, pharmacokinetics, drug interactions, clinical use, adverse effects, and dosage and administration of felbamate, gabapentin, lamotrigine, and vigabatrin. Felbamate is indicated in children as adjunctive therapy in the treatment of partial and generalized seizures secondary to Lennox-Gastaut syndrome. Because of life-threatening adverse effects, including aplastic anemia and hepatotoxicity, felbamate is reserved for use only when the benefits of treatment outweigh the risks of toxicity. Presently, gabapentin is indicated as adjunctive treatment of partial seizures with or without generalization in patients older than 12 years of age. To date gabapentin has not been studied in patients younger than age 12 years. Even though lamotrigine is not approved by the Food and Drug Administration (FDA) for pediatric use, preliminary clinical trials show promising results in the treatment of partial and absence seizures as well as Lennox-Gastaut syndrome. Many studies have evaluated the use of vigabatrin for the treatment of intractable seizures. Seizure types most effectively treated include partial seizures, Lennox-Gastaut syndrome, and possibly infantile spasms. Lamotrigine and vigabatrin should be used with caution in patients with myoclonic seizures because an increase in seizure frequency may occur. Copyright © 1996 by W.B. Saunders Company

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Bhardwaj, Parveen, RamKrishan Kaushal, and Akshat Chandel. "Biotinidase deficiency: A treatable cause of infantile seizures." Journal of Pediatric Neurosciences 5, no. 1 (2010): 82. http://dx.doi.org/10.4103/1817-1745.66660.

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Millichap, J. Gordon. "SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures." Pediatric Neurology Briefs 18, no. 5 (May 1, 2004): 34. http://dx.doi.org/10.15844/pedneurbriefs-18-5-2.

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Millichap, J. Gordon. "Diagnostic Value of Eye Opening in Infantile Seizures." Pediatric Neurology Briefs 19, no. 10 (October 1, 2005): 73. http://dx.doi.org/10.15844/pedneurbriefs-19-10-1.

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Millichap, J. G. "Diagnostic Value of Eye Opening in Infantile Seizures." AAP Grand Rounds 15, no. 1 (January 1, 2006): 7–8. http://dx.doi.org/10.1542/gr.15-1-7.

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Antoniuk, Sérgio A., Paulo C. Ragazzo, João B. Arruda, Orlando M. Arruda, Ana L. Jacques, Telma M. Campos, Sebastião Unes, Luiz A. Portela, and Natal Arantes. "Partial seizures evolving to infantile spasms: Surgical treatment." Pediatric Neurology 8, no. 5 (September 1992): 378. http://dx.doi.org/10.1016/0887-8994(92)90221-j.

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Hsieh, David T., Jennifer M. Walker, and Phillip L. Pearl. "Infantile seizures: Infants are not just little children." Current Neurology and Neuroscience Reports 8, no. 2 (March 2008): 139–44. http://dx.doi.org/10.1007/s11910-008-0022-1.

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