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Article

Enlarging the phenotypical spectrum of DYNC1H1-related epilepsy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 27 Apr 2026

Vega Giada, Camussi Diletta, Astrea Guja, Bartolini Emanuele

Abstract excerpt

BACKGROUND: Epilepsy is a frequent feature of genetic neurodevelopmental disorders and is increasingly recognized as a disorder of disrupted neuronal networks rather than isolated focal pathology. DYNC1H1, encoding the heavy chain of cytoplasmic dynein 1, is implicated in a broad spectrum of neuromuscular and central nervous system disorders, including intellectual disability, malformations of cortical...

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Identifiers

PMID: 42043625
DOI: 10.1007/s10072-026-09055-8

Genes

DYNC1H1

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