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Article

CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.

Brain & development - 1 Apr 2015

Wong Virginia Chun-Nei, Kwong Anna Ka-Yee

Abstract excerpt

UNLABELLED: A Chinese boy presented at 18 months with intractable epilepsy, developmental delay and autistic features. He had multiple seizure types, including absence, myoclonic seizures, limb spasm and tonic seizures. His seizures were finally controlled at 3 years of age with clonazepam and a short course of chloral hydrate incidentally given for his insomnia. Subsequently, he had improvement in his...

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Source

Identifiers

PMID: 25085838
DOI: 10.1016/j.braindev.2014.07.003

Genes

CDKL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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