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Article

Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.

Epileptic disorders : international epilepsy journal with videotape - 1 Apr 2026

Palumbo Orazio, Costantino Umberto, Benvenuto Mario, Palumbo Pietro, Di Claudio Maria Teresa, Imbrici Paola, Liantonio Antonella, Carella Massimo, Castori Marco, d'Orsi Giuseppe

Abstract excerpt

Deleterious variants in the CACNA1A gene, encoding the CaV2.1 P/Q-type voltage-gated calcium channel, cause a broad spectrum of neurological disorders, including familial hemiplegic migraine, episodic ataxia, and developmental and epileptic encephalopathy (DEE). Information on genotype-phenotype correlations and on the factors influencing clinical variability is still limited, hindering potential applications in...

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Identifiers

PMID: 41718461
DOI: 10.1002/epd2.70207

Genes

CACNA1A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

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Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.PMID 41718461Read ↗

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