Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A

Pathogenic heterozygous variants in CACNA1A are associated with familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6, and more recently, neurodevelopmental disorders. We describe a severe, early-onset phenotype including severe muscular hypotonia, early-onset epilep...

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Podrobná bibliografie

Hlavní autoři:	Dilbar Mammadova, Cornelia Kraus, Thomas Leis, Bernt Popp, Christiane Zweier, Andre Reis, Regina Trollmann
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2024-10-01
Edice:	Frontiers in Neurology
Témata:	early-onset epileptic encephalopathy apneic spells optic nerve atrophy burst suppression developmental epileptic encephalopathy generalized epilepsy
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fneur.2024.1458109/full
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