Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk

Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk

IntroductionThe CACNA1A gene encodes the pore-forming subunit of the Cav2.1 (P/Q type) neuronal calcium channel and pathogenic variants cause a variety of neurological disorders including episodic and congenital ataxia, familial hemiplegic migraine, developmental delay and epilepsy. Multiple types o...

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Bibliographic Details
Main Authors: Simone Pelizzari, Marta Campiglio, Yousra El Ghaleb, Tatjana Bierhals, Maja Hempel, Jonas Denecke, Bernhard E. Flucher, Jessika Johannsen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Neurology
Subjects:
P/Q-type calcium channels
CaV2.1
status epilepticus
brainstem spreading depolarization
preventive strategies
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2025.1582548/full
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https://www.frontiersin.org/articles/10.3389/fneur.2025.1582548/full

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