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Article

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

Epilepsia - 1 Nov 2014

Mei Davide, Darra Francesca, Barba Carmen, Marini Carla, Fontana Elena, Chiti Laura, Parrini Elena, Dalla Bernardina Bernardo, Guerrini Renzo

Abstract excerpt

OBJECTIVE: Mutations involving the cyclin-dependent kinase-like 5 (CDKL5) gene cause an early onset epileptic encephalopathy (EE) with severe neurologic impairment and a skewed 12:1 female-to-male ratio. To date, 18 mutations have been described in boys. We analyzed our cohort of boys with early onset EE to assess the diagnostic yield of our molecular approach. METHODS: We studied 74 boys who presented early...

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Source

Identifiers

PMID: 25266480
DOI: 10.1111/epi.12803

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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