Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Epilepsy and CACNB4[original query] |
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A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. Neurobiology of disease 2008 Dec 32 (3): 349-54. Ohmori Iori, Ouchida Mamoru, Miki Takafumi, Mimaki Nobuyoshi, Kiyonaka Shigeki, Nishiki Teiichi, Tomizawa Kazuhito, Mori Yasuo, Matsui Hide |
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 2019 5 21 (11): 2496-2503. Heyne Henrike O, Artomov Mykyta, Battke Florian, Bianchini Claudia, Smith Douglas R, Liebmann Nora, Tadigotla Vasisht, Stanley Christine M, Lal Dennis, Rehm Heidi, Lerche Holger, Daly Mark J, Helbig Ingo, Biskup Saskia, Weber Yvonne G, Lemke Johannes |
Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy. Frontiers in pediatrics 2022 7 10 919996. Naseer Muhammad Imran, Abdulkareem Angham Abdulrhman, Rasool Mahmood, Algahtani Hussein, Muthaffar Osama Yousef, Pushparaj Peter Nates |
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10). BMJ case reports 2022 3 15 (3): . Ásbjörnsdóttir Birna, Henriksen Otto Mølby, Lindquist Suzanne, Møller Lisbeth Birk, Sidaros Annette, Nielsen Jørgen Er |
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- Page last updated:May 06, 2024
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