2024
DOI: 10.1177/26330040241245725
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Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective

Pangkong M. Fox,
Sunitha Malepati,
Lisa Manaster
et al.

Abstract: CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission. The broad spectrum of CACNA1A-related neurological disorders includes developmental and epileptic encephalopathies, familial hemiplegic migraine type 1, episodic ataxia type 2, spinocerebellar ataxia type 6, together with unclassified presentations… Show more

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