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Article

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2017

Jdila Marwa Ben, Issa Abir Ben, Khabou Boudour, Rhouma Bochra Ben, Kamoun Fatma, Ammar-Keskes Leila, Triki Chahnez, Fakhfakh Faiza

Abstract excerpt

INTRODUCTION: West syndrome is a rare epileptic encephalopathy of early infancy, characterized by epileptic spasms, hypsarrhythmia, and psychomotor retardation beginning in the first year of life. METHODS: The present study reports the clinical, molecular and bioinformatic investigation in the three studied West patients. RESULTS: The results revealed a complex genotype with more than one mutation in each patient...

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Source

Identifiers

PMID: 28780406
DOI: 10.1016/j.cca.2017.08.001

Genes

CDKL5

Variants

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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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