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2023 16
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2025 29
2026 8

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Page 1
Hemiplegic migraine.
de Boer I, Hansen JM, Terwindt GM. de Boer I, et al. Handb Clin Neurol. 2024;199:353-365. doi: 10.1016/B978-0-12-823357-3.00015-X. Handb Clin Neurol. 2024. PMID: 38307656 Review.
Hemiplegic migraine can occur either familial or sporadic. Three genes, CACNA1A, ATP1A2, and SCN1A have been identified. Taken together, mutations in these three genes predict increased neurotransmitter and potassium ion levels at the synaptic cleft, which facilitates cort …
Hemiplegic migraine can occur either familial or sporadic. Three genes, CACNA1A, ATP1A2, and SCN1A have been identified. Taken togeth …
Familial hemiplegic migraine.
Villar-Martinez MD, Moreno-Ajona D, Goadsby PJ. Villar-Martinez MD, et al. Handb Clin Neurol. 2024;203:135-144. doi: 10.1016/B978-0-323-90820-7.00007-0. Handb Clin Neurol. 2024. PMID: 39174245 Review.
These have been demonstrated to have a mutation in either CACNA1A, ATP1A2 or SCN1A, which encode different subunits of channels, involving P/Q-type calcium channel, Na/K pump and Na channel, respectively, located in neurons and glial cells. ...
These have been demonstrated to have a mutation in either CACNA1A, ATP1A2 or SCN1A, which encode different subunits of channels, invo …
The episodic ataxias.
Graves TD, Snell HD, Khodakhah K, Griggs RC, Jen JC. Graves TD, et al. Handb Clin Neurol. 2024;203:123-133. doi: 10.1016/B978-0-323-90820-7.00012-4. Handb Clin Neurol. 2024. PMID: 39174244 Review.
This chapter focuses on the clinical assessment and management of EA, genetic diagnosis, and neurophysiologic consequences of the causative mutations in the best characterized EA syndromes: EA1 caused by mutations in KCNA1 encoding a neuronal voltage-gated potassium channel, EA2 …
This chapter focuses on the clinical assessment and management of EA, genetic diagnosis, and neurophysiologic consequences of the causative …
The impact of rare protein coding genetic variation on adult cognitive function.
Chen CY, Tian R, Ge T, Lam M, Sanchez-Andrade G, Singh T, Urpa L, Liu JZ, Sanderson M, Rowley C, Ironfield H, Fang T; Biogen Biobank Team; SUPER-Finland study; Northern Finland Intellectual Disability study; Daly M, Palotie A, Tsai EA, Huang H, Hurles ME, Gerety SS, Lencz T, Runz H. Chen CY, et al. Nat Genet. 2023 Jun;55(6):927-938. doi: 10.1038/s41588-023-01398-8. Epub 2023 May 25. Nat Genet. 2023. PMID: 37231097 Free PMC article.
We identify eight genes (ADGRB2, KDM5B, GIGYF1, ANKRD12, SLC8A1, RC3H2, CACNA1A and BCAS3) that are associated with adult cognitive function through rare coding variants with large effects. ...
We identify eight genes (ADGRB2, KDM5B, GIGYF1, ANKRD12, SLC8A1, RC3H2, CACNA1A and BCAS3) that are associated with adult cognitive f …
Phenotypic variability in cases with CACNA1A mutation.
Bozkaya-Yilmaz S, Olgac-Dundar N, Aliyeva N, Ersen A, Gencpinar P, Gungor M, Hiz AS, Yis U, Sarikaya-Uzan G, Sarigecili E, Kirik S, Erol I, Besen S, Kayilioglu H, Haspolat S, Kipoglu O, Ekici A, Turay S, Tosun A, Ayanoglu M, Danis A, Hancı F, Kutbay YB, Ozyilmaz B, Kara B. Bozkaya-Yilmaz S, et al. Eur J Pediatr. 2025 Mar 20;184(4):261. doi: 10.1007/s00431-025-06062-3. Eur J Pediatr. 2025. PMID: 40111503 Free PMC article.
The purpose of this study was to enhance understanding of CACNA1A gene variants by elucidating the clinical profiles of patients with different variants. ...Incomplete penetrance is a phenomenon that may occur, as neurodevelopmental or neuropsychiatric findings are not exh …
The purpose of this study was to enhance understanding of CACNA1A gene variants by elucidating the clinical profiles of patients with …
CACNA1A Genetic Variants and Their Potential Involvement in Migraine Pathogenesis.
Szymanowicz O, Słowikowski B, Poszwa J, Goutor U, Wiszniewska M, Jagodziński PP, Kozubski W, Dorszewska J. Szymanowicz O, et al. Int J Mol Sci. 2025 Aug 21;26(16):8083. doi: 10.3390/ijms26168083. Int J Mol Sci. 2025. PMID: 40869402 Free PMC article.
The pathogenesis of migraine remains incompletely understood, though evidence suggests a multifactorial etiology involving genetic factors. The CACNA1A gene has been implicated in rare forms of Familial Hemiplegic Migraine (FHM). This study aimed to investigate the role of …
The pathogenesis of migraine remains incompletely understood, though evidence suggests a multifactorial etiology involving genetic factors. …
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S, Oliver KL, Regan BM, Schneider AL, Myers CT, Mehaffey MG, LaCroix AJ, Antony J, Webster R, Cardamone M, Subramanian GM, Chiu ATG, Roza E, Teleanu RI, Malone S, Leventer RJ, Gill D, Berkovic SF, Hildebrand MS, Goad BS, Howell KB, Symonds JD, Brunklaus A, Sadleir LG, Zuberi SM, Mefford HC, Scheffer IE. Viswanathan S, et al. Ann Neurol. 2024 Nov;96(5):932-943. doi: 10.1002/ana.27041. Epub 2024 Aug 2. Ann Neurol. 2024. PMID: 39096015 Free PMC article.
We identified 10 novel D/EE-SWAS genes with a range of functions: ATP1A2, CACNA1A, FOXP1, GRIN1, KCNMA1, KCNQ3, PPFIA3, PUF60, SETD1B, and ZBTB18, and 2 novel copy number variants, 17p11.2 duplication and 5q22 deletion. ...
We identified 10 novel D/EE-SWAS genes with a range of functions: ATP1A2, CACNA1A, FOXP1, GRIN1, KCNMA1, KCNQ3, PPFIA3, PUF60, SETD1B …
The clinical and genetic spectrum of paediatric speech and language disorders.
Magielski JH, Ruggiero SM, Xian J, Parthasarathy S, Galer PD, Ganesan S, Back A, McKee JL, McSalley I, Gonzalez AK, Morgan A, Donaher J, Helbig I. Magielski JH, et al. Brain. 2025 Feb 3;148(2):663-674. doi: 10.1093/brain/awae264. Brain. 2025. PMID: 39412438 Free PMC article.
The most common genetic disorders retrievable in our analysis of electronic medical records were STXBP1 (n = 21), PTEN (n = 20) and CACNA1A (n = 18). When assessing associations of genetic diagnoses with specific linguistic phenotypes, we observed associations of STXBP1 an …
The most common genetic disorders retrievable in our analysis of electronic medical records were STXBP1 (n = 21), PTEN (n = 20) and CACNA …
Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features.
Rayner G, Honybun E, Bahlo M, Oliver KL, Scheffer IE. Rayner G, et al. Ann Neurol. 2025 Jul;98(1):35-47. doi: 10.1002/ana.27209. Epub 2025 Feb 14. Ann Neurol. 2025. PMID: 39950246 Free PMC article.
Twenty-nine percent of the patients with POE with genetic data had a rare pathogenic variant: 19 in an epilepsy gene (PCDH19, SCN1A, DEPDC5, KCNT1, CHD2, SLC2A1, NPRL3, CLN3, NPRL3, ATP1A3, and CACNA1A) and 4 had a chromosomal anomaly. Fifty-seven percent of the patients w …
Twenty-nine percent of the patients with POE with genetic data had a rare pathogenic variant: 19 in an epilepsy gene (PCDH19, SCN1A, DEPDC5, …
70 results