Journal articles on the topic 'CACNA1A gene'
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Gawel, Kinga, Waldemar A. Turski, Wietske van der Ent, Benan J. Mathai, Karolina J. Kirstein-Smardzewska, Anne Simonsen, and Camila V. Esguerra. "Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene." Molecular Neurobiology 57, no. 4 (December 26, 2019): 1904–16. http://dx.doi.org/10.1007/s12035-019-01860-x.
Full textMiao, Qing-Long, Stefan Herlitze, Melanie D. Mark, and Jeffrey L. Noebels. "Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms." Brain 143, no. 1 (December 4, 2019): 161–74. http://dx.doi.org/10.1093/brain/awz365.
Full textBolte, Kristen N., Melissa Assaf, Tamara Zach, and Shubhangi Peche. "Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations." Child Neurology Open 9 (January 2022): 2329048X2210949. http://dx.doi.org/10.1177/2329048x221094977.
Full textMaksemous, Neven, Heidi G. Sutherland, Robert A. Smith, Larisa M. Haupt, and Lyn R. Griffiths. "Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia." Biomedicines 8, no. 5 (May 25, 2020): 134. http://dx.doi.org/10.3390/biomedicines8050134.
Full textIsaacs, David Alan, Michael J. Bradshaw, Kelly Brown, and Peter Hedera. "Case report of novel CACNA1A gene mutation causing episodic ataxia type 2." SAGE Open Medical Case Reports 5 (January 1, 2017): 2050313X1770604. http://dx.doi.org/10.1177/2050313x17706044.
Full textMannerak, Mari Aaroe, Aslan Lashkarivand, and Per Kristian Eide. "Trigeminal neuralgia and genetics: A systematic review." Molecular Pain 17 (January 2021): 174480692110161. http://dx.doi.org/10.1177/17448069211016139.
Full textSjöstrand, C., V. Giedratis, K. Ekbom, E. Waldenlind, and J. Hillert. "CACNA1A Gene Polymorphisms in Cluster Headache." Cephalalgia 21, no. 10 (December 2001): 953–58. http://dx.doi.org/10.1046/j.1468-2982.2001.00281.x.
Full textThomsen, LL, E. Oestergaard, A. Bjornsson, H. Stefansson, AC Fasquel, J. Gulcher, K. Stefansson, and J. Olesen. "Screen for CACNA1A and ATP1A2 Mutations in Sporadic Hemiplegic Migraine Patients." Cephalalgia 28, no. 9 (September 2008): 914–21. http://dx.doi.org/10.1111/j.1468-2982.2008.01599.x.
Full textHaan, J., JA van Vliet, EE Kors, GM Terwindt, FLMG Vermeulen, AMJM van den Maagdenberg, RR Frants, and MD Ferrari. "No Involvement of the Calcium Channel Gene (CACNA1A) in a Family with Cluster Headache." Cephalalgia 21, no. 10 (December 2001): 959–62. http://dx.doi.org/10.1046/j.1468-2982.2001.00283.x.
Full textCleves, C., S. Parikh, AD Rothner, and SJ Tepper. "Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: Hypothesis, family genealogy, gene typing and classification." Cephalalgia 30, no. 6 (August 1, 2009): 740–43. http://dx.doi.org/10.1111/j.1468-2982.2009.01958.x.
Full textde Vries, B., AH Stam, F. Beker, AMJM van den Maagdenberg, KRJ Vanmolkot, LAEM Laan, IB Ginjaar, et al. "CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood." Cephalalgia 28, no. 8 (August 2008): 887–91. http://dx.doi.org/10.1111/j.1468-2982.2008.01596.x.
Full textvan den Maagdenberg, Arn M. J. M., Joerg Striessnig, Michel D. Ferrari, and Rune R. Frants. "CACNA1A gene mutations in familial hemiplegic migraine." Journal of Headache and Pain 1, S2 (December 2000): S121—S128. http://dx.doi.org/10.1007/s101940070005.
Full textProntera, P., P. Sarchielli, S. Caproni, C. Bedetti, LM Cupini, P. Calabresi, and C. Costa. "Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications." Cephalalgia 38, no. 2 (January 6, 2017): 361–73. http://dx.doi.org/10.1177/0333102416686347.
Full textGeerlings, Rianne PJ, Peter J. Koehler, Danielle YP Haane, Anine H. Stam, Boukje de Vries, Elles MJ Boon, and Joost Haan. "Head tremor related to CACNA1A mutations." Cephalalgia 31, no. 12 (July 18, 2011): 1315–19. http://dx.doi.org/10.1177/0333102411414442.
Full textMaksemous, Neven, Robert A. Smith, Heidi G. Sutherland, Bridget H. Maher, Omar Ibrahim, Garth A. Nicholson, Elisabeth P. Carpenter, Rod A. Lea, M. Zameel Cader, and Lyn R. Griffiths. "Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine." Cephalalgia Reports 2 (January 1, 2019): 251581631988163. http://dx.doi.org/10.1177/2515816319881630.
Full textStubberud, Anker, Emer O’Connor, Erling Tronvik, Henry Houlden, and Manjit Matharu. "R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report." Case Reports in Neurology 13, no. 1 (February 16, 2021): 123–30. http://dx.doi.org/10.1159/000512275.
Full textMaksemous, Neven, Robert Smith, Heidi Sutherland, Hugo Sampaio, and Lyn Griffiths. "Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity." International Journal of Molecular Sciences 19, no. 10 (October 11, 2018): 3113. http://dx.doi.org/10.3390/ijms19103113.
Full textJaudon, Fanny, Simona Baldassari, Ilaria Musante, Agnes Thalhammer, Federico Zara, and Lorenzo A. Cingolani. "Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2." Biomedicines 8, no. 9 (September 5, 2020): 332. http://dx.doi.org/10.3390/biomedicines8090332.
Full textDebiais, S., C. Hommet, I. Bonnaud, MA Barthez, S. Rimbaux, F. Riant, and A. Autret. "The FHM1 Mutation S218L: A Severe Clinical Phenotype? A Case Report and Review of the Literature." Cephalalgia 29, no. 12 (December 2009): 1337–39. http://dx.doi.org/10.1111/j.1468-2982.2009.01884.x.
Full textBruun, Marie, Lena Elisabeth Hjermind, Carsten Thomsen, Else Danielsen, Lise Lykke Thomsen, Lars Hageman Pinborg, Nastaran Khabbazbavani, and Joergen Erik Nielsen. "Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report." Case Reports in Neurology 7, no. 1 (April 14, 2015): 84–89. http://dx.doi.org/10.1159/000381827.
Full textPelzer, Nadine, Joost Haan, Anine H. Stam, Lisanne S. Vijfhuizen, Stephany C. Koelewijn, Amber Smagge, Boukje de Vries, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, and Gisela M. Terwindt. "Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation." Neurology 90, no. 7 (January 17, 2018): e575-e582. http://dx.doi.org/10.1212/wnl.0000000000004966.
Full textLopes, Luciana R., Mario Fernando Prieto Peres, Kaate R. J. Vanmolkot, Patrícia R. Tobo, Eliova Zukerman, Rune R. Frants, Arn M. J. M. van den Maagdenberg, and Carlos Alberto Moreira-Filho. "Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families." Arquivos de Neuro-Psiquiatria 64, no. 3a (September 2006): 549–52. http://dx.doi.org/10.1590/s0004-282x2006000400001.
Full textCamia, Francesca, Livia Pisciotta, Giovanni Morana, Maria Cristina Schiaffino, Salvatore Renna, Paola Carrera, Maurizio Ferrari, et al. "Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?" Cephalalgia 37, no. 12 (September 19, 2016): 1202–6. http://dx.doi.org/10.1177/0333102416668655.
Full textStendel, Claudia, Maria Cristina D’Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, et al. "Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia." International Journal of Molecular Sciences 21, no. 11 (May 27, 2020): 3810. http://dx.doi.org/10.3390/ijms21113810.
Full textStuart, Shani, Bishakha Roy, Gail Davies, Nevene Maksemous, Robert Smith, and Lyn R. Griffiths. "Detection of a Novel Mutation in the CACNA1A gene." Twin Research and Human Genetics 15, no. 1 (February 2012): 120–25. http://dx.doi.org/10.1375/twin.15.1.120.
Full textZhang, Yang, Ning Chen, Muke Zhou, Jian Guo, Jiang Guo, and Li He. "A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report." Cephalalgia 37, no. 13 (November 12, 2016): 1294–98. http://dx.doi.org/10.1177/0333102416677049.
Full textZhang, Lin, Yun Sun, Xiaochao Zhang, Xiyun Shan, Jianmei Li, Yao Yao, Yun Shu, et al. "Three Novel Genetic Variants in the FAM110D, CACNA1A, and NLRP12 Genes Are Associated With Susceptibility to Hypertension Among Dai People." American Journal of Hypertension 34, no. 8 (February 23, 2021): 874–79. http://dx.doi.org/10.1093/ajh/hpab040.
Full textMalamud, Emily, and Scott I. Otallah. "Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2." Child Neurology Open 9 (January 2022): 2329048X2210754. http://dx.doi.org/10.1177/2329048x221075447.
Full textSleigh, Jamie W., Kate Leslie, Andrew J. Davidson, David J. Amor, Peter Diakumis, Vesna Lukic, Paul J. Lockhart, and Melanie Bahlo. "Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia." Anesthesiology 131, no. 5 (November 1, 2019): 974–82. http://dx.doi.org/10.1097/aln.0000000000002877.
Full textWani, IrfanYousuf, Aadil Bashir, Shiekh Saleem, Maqbool Wani, Roohi Rasool, Azhara Gulnar, and Sawan Verma. "Association of single nucleotide polymorphisms of CACNA1A gene in migraine." Indian Journal of Human Genetics 20, no. 1 (2014): 59. http://dx.doi.org/10.4103/0971-6866.132757.
Full textZangaladze, Andro, Ali A. Asadi-Pooya, Avi Ashkenazi, and Michael R. Sperling. "Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation." Epilepsy & Behavior 17, no. 2 (February 2010): 293–95. http://dx.doi.org/10.1016/j.yebeh.2009.12.017.
Full textBrugnoni, R., M. Leone, A. Rigamonti, E. Moranduzzo, F. Cornelio, R. Mantegazza, and G. Bussone. "Is the CACNA1A gene involved in familial migraine with aura?" Neurological Sciences 23, no. 1 (April 2002): 1–5. http://dx.doi.org/10.1007/s100720200015.
Full textNikaido, Koki, Nobutada Tachi, Kazuhiro Ohya, Takahito Wada, and Hiroyuki Tsutsumi. "New mutation of CACNA1A gene in episodic ataxia type 2." Pediatrics International 53, no. 3 (June 2011): 415–16. http://dx.doi.org/10.1111/j.1442-200x.2011.03390.x.
Full textKors, E. E., J. Haan, N. J. Giffin, L. Pazdera, C. Schnittger, G. G. Lennox, G. M. Terwindt, et al. "Expanding the Phenotypic Spectrum of the CACNA1A Gene T666M Mutation." Archives of Neurology 60, no. 5 (May 1, 2003): 684. http://dx.doi.org/10.1001/archneur.60.5.684.
Full textStahl, John S., and Zachary C. Thumser. "Flocculus Purkinje cell signals in mouse Cacna1a calcium channel mutants of escalating severity: an investigation of the role of firing irregularity in ataxia." Journal of Neurophysiology 112, no. 10 (November 15, 2014): 2647–63. http://dx.doi.org/10.1152/jn.00129.2014.
Full textMartínez-Monseny, Antonio F., Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, et al. "CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings." International Journal of Molecular Sciences 22, no. 10 (May 13, 2021): 5180. http://dx.doi.org/10.3390/ijms22105180.
Full textNaik, Swati, Keith Pohl, Mohsin Malik, Ata Siddiqui, and Dragana Josifova. "Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene." Pediatric Neurology 45, no. 5 (November 2011): 328–30. http://dx.doi.org/10.1016/j.pediatrneurol.2011.08.002.
Full textLi, Weidong, Ying Zhou, Xiaoli Tian, Tae Yeon Kim, Namiko Ito, Kaori Watanabe, Akiko Tsuji, et al. "New Ataxic Tottering-6j Mouse Allele Containing a Cacna1a Gene Mutation." PLoS ONE 7, no. 8 (August 31, 2012): e44230. http://dx.doi.org/10.1371/journal.pone.0044230.
Full textZielman, R., WM Teeuwisse, F. Bakels, J. Van der Grond, A. Webb, MA van Buchem, MD Ferrari, MC Kruit, and GM Terwindt. "Biochemical changes in the brain of hemiplegic migraine patients measured with 7 tesla 1H-MRS." Cephalalgia 34, no. 12 (March 20, 2014): 959–67. http://dx.doi.org/10.1177/0333102414527016.
Full textHaan, J., EE Kors, GM Terwindt, FLMG Vermeulen, MN Vergouwe, AMJM van den Maagdenberg, DS Gill, et al. "Alternating Hemiplegia of Childhood: No Mutations in the Familial Hemiplegic Migraine CACNA1A Gene." Cephalalgia 20, no. 8 (October 2000): 696–700. http://dx.doi.org/10.1046/j.0333-1024.2000.00095.x.
Full textFrontali, M., A. Novelletto, G. Annesi, and C. Jodice. "CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1386 (June 29, 1999): 1089–94. http://dx.doi.org/10.1098/rstb.1999.0464.
Full textChioza, B., H. Wilkie, L. Nashef, J. Blower, D. McCormick, P. Sham, P. Asherson, and A. J. Makoff. "Association between the 1a calcium channel gene CACNA1A and idiopathic generalized epilepsy." Neurology 56, no. 9 (May 8, 2001): 1245–46. http://dx.doi.org/10.1212/wnl.56.9.1245.
Full textVahedi, K., C. Denier, A. Ducros, V. Bousson, C. Levy, H. Chabriat, M. Haguenau, E. Tournier-Lasserve, and M. G. Bousser. "CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy." Neurology 55, no. 7 (October 10, 2000): 1040–42. http://dx.doi.org/10.1212/wnl.55.7.1040.
Full textShimazaki, H., T. Mashiko, Y. Kim, T. Ozawa, R. Koide, T. Matsuura, and S. Fujimoto. "Two sporadic cases of episodic ataxia type 2 with CACNA1A gene mutations." Journal of the Neurological Sciences 381 (October 2017): 660. http://dx.doi.org/10.1016/j.jns.2017.08.1858.
Full textChan, Y. C., E. Wilder-Smith, J. M. Burgunder, V. Sharma, and B. Ong. "P20.2 Spectrum of electroencephalographic changes in patients with S218L CACNA1A gene mutation." Clinical Neurophysiology 117 (September 2006): 215–16. http://dx.doi.org/10.1016/j.clinph.2006.06.411.
Full textChan, Kayi Y., Alejandro Labastida-Ramírez, Martha B. Ramírez-Rosas, Sieneke Labruijere, Ingrid M. Garrelds, Alexander HJ Danser, Arn MJM van den Maagdenberg, and Antoinette MaassenVanDenBrink. "Trigeminovascular calcitonin gene-related peptide function in Cacna1a R192Q-mutated knock-in mice." Journal of Cerebral Blood Flow & Metabolism 39, no. 4 (August 9, 2017): 718–29. http://dx.doi.org/10.1177/0271678x17725673.
Full textBattistini, S., S. Stenirri, M. Piatti, C. Gelfi, P. G. Righetti, R. Rocchi, F. Giannini, et al. "A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia." Neurology 53, no. 1 (July 1, 1999): 38. http://dx.doi.org/10.1212/wnl.53.1.38.
Full textChabriat, H., K. Vahedi, C. A. Clark, C. Poupon, A. Ducros, C. Denier, D. Le Bihan, and M. G. Bousser. "Decreased hemispheric water mobility in hemiplegic migraine related to mutation of CACNA1A gene." Neurology 54, no. 2 (January 25, 2000): 510. http://dx.doi.org/10.1212/wnl.54.2.510.
Full textGarcía-Baró-Huarte, María, Ana María Iglesias-Mohedano, María Slöcker-Barrio, María Vázquez-López, Marina García-Morín, María Concepción Miranda-Herrero, and Pedro Castro-Castro. "Phenotypic Variability in a Four Generation Family With a p.Thr666Met CACNA1A Gene Mutation." Pediatric Neurology 51, no. 4 (October 2014): 557–59. http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.008.
Full textTrettel, Flavia, Elide Mantuano, Valentina Calabresi, Liana Veneziano, Anne S. Olsen, Anca Georgescu, Laurie Gordon, Guglielmo Sabbadini, Marina Frontali, and Carla Jodice. "A fine physical map of the CACNA1A gene region on 19p13.1–p13.2 chromosome." Gene 241, no. 1 (January 2000): 45–50. http://dx.doi.org/10.1016/s0378-1119(99)00470-9.
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