Novel Association between SCN1A Mutation and Central Sleep Apnea: A Case of Basilar-Type Migraine
Abstract
We report a 37-year-old woman with recurrent episodes of excessive daytime sleepiness, bizarre behavior, social delays, and confusion lasting 3–5 days. Between episodes, she experienced only mild migraine-like headaches. Genetic testing identified an SCN1A mutation, which may cause central sleep apnea, basilar-type migraine, and a channelopathy-related encephalopathic state in her. This is the first report linking an SCN1A mutation with central sleep apnea. We recommend future cohort studies to clearly examine the association between SCN1A mutation and central sleep apnea.
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[11] VCV001062030.7 - ClinVar - NCBI. Nihgov. 2025.
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spectrum: novel epilepsy phenotypes and therapeutic implications. Brain. 2022;145(11):3816–31. https://doi.
org/10.1093/brain/awac210
[13] Cuenca-León E, Corominas R, Fernàndez-Castillo N, Volpini V, Del Toro M, Roig M, et al. Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. Cephalalgia. 2008;28(10):1039–47. https://doi.org/10.1111/j.1468-2982.2008.01645.x
[14] Wirrell E. SCN1A-Related Epilepsies. Epilepsy.com, Epilepsy Foundation; 2020 [Available from: https://www.epilepsy.com/causes/genetic/scn1a-related-epilepsies
[15] Ding J, Li X, Tian H, Wang L, Guo B, Wang Y, et al. SCN1A mutation—beyond Dravet syndrome: a systematic review and narrative synthesis. Front Neurol. 2021;12:743726. https://doi.org/10.3389/fneur.2021.743726
[16] Dhamija R, Erickson MK, St Louis EK, Wirrell E, Kotagal S. Sleep abnormalities in children with Dravet syndrome.
Pediatr Neurol. 2014;50(5):474–8. https://doi.org/10.1016/j. pediatrneurol.2014.01.017
[2] Kaniecki RG. Basilar-type migraine. Curr Pain Headache Rep. 2009;13(3):217–20. https://doi.org/10.1007/s11916-009-
0036-7
[3] Lapkin ML, Golden GS. Basilar artery migraine: a review of 30 cases. Am J Dis Child. 1978;132(3):278–81. https://doi.
org/10.1001/archpedi.1978.02120280062012
[4] Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005;366(9483):371–7. https://doi.org/10.1016/S0140-6736
(05)66786-4
[5] Parihar R, Ganesh S. The SCN1A gene variants and epileptic encephalopathies. J Hum Genet. 2013;58(9):573–80. https://doi.org/10.1038/jhg.2013.77
[6] Meng H, Xu HQ, Yu L, Lin GW, He N, Su T, et al. The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype. Hum Mutat. 2015;36(6):573–80. https://doi.
org/10.1002/humu.22782
[7] Barbieri R, Bertelli S, Pusch M, Gavazzo P. Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene. J Headache Pain. 2019;20(1):107. https://doi.org/10.1186/s10194-019-1056-2
[8] Brownstein CA, Goldstein RD, Thompson CH, Haynes RL, Giles E, Sheidley B, et al. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018;59(4):e56–62. https://doi.org/10.1111/epi.14055
[9] Dempsey JA. Central sleep apnea: misunderstood and mistreated! F1000Res. 2019;8. https://doi.org/10.12688/
f1000research.18358.1
[10] Eckert DJ, Jordan AS, Merchia P, Malhotra A. Central sleep apnea: pathophysiology and treatment. Chest. 2007;131(2):595–607. https://doi.org/10.1378/chest.06-2287
[11] VCV001062030.7 - ClinVar - NCBI. Nihgov. 2025.
[12] Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, et al. The gain of function SCN1A disorder
spectrum: novel epilepsy phenotypes and therapeutic implications. Brain. 2022;145(11):3816–31. https://doi.
org/10.1093/brain/awac210
[13] Cuenca-León E, Corominas R, Fernàndez-Castillo N, Volpini V, Del Toro M, Roig M, et al. Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. Cephalalgia. 2008;28(10):1039–47. https://doi.org/10.1111/j.1468-2982.2008.01645.x
[14] Wirrell E. SCN1A-Related Epilepsies. Epilepsy.com, Epilepsy Foundation; 2020 [Available from: https://www.epilepsy.com/causes/genetic/scn1a-related-epilepsies
[15] Ding J, Li X, Tian H, Wang L, Guo B, Wang Y, et al. SCN1A mutation—beyond Dravet syndrome: a systematic review and narrative synthesis. Front Neurol. 2021;12:743726. https://doi.org/10.3389/fneur.2021.743726
[16] Dhamija R, Erickson MK, St Louis EK, Wirrell E, Kotagal S. Sleep abnormalities in children with Dravet syndrome.
Pediatr Neurol. 2014;50(5):474–8. https://doi.org/10.1016/j. pediatrneurol.2014.01.017
| Files | ||
| Issue | Vol 10 No 1 (2025): January-February | |
| Section | Case Report(s) | |
| Keywords | ||
| SCN1A mutation Central sleep apnea Basilar-type migraine Sleep disorders Genetic mutation Migraine pathophysiology | ||
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How to Cite
1.
Esmaeili N, Hasani A, Salehnezhad T, Amirifard H. Novel Association between SCN1A Mutation and Central Sleep Apnea: A Case of Basilar-Type Migraine. CRCP. 2025;10(1):23-28.
