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Article

Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.

Brain & development - 1 Oct 2015

Kato Takeshi, Morisada Naoya, Nagase Hiroaki, Nishiyama Masahiro, Toyoshima Daisaku, Nakagawa Taku, Maruyama Azusa, Fu Xue Jun, Nozu Kandai, Wada Hiroko, Takada Satoshi, Iijima Kazumoto

Abstract excerpt

INTRODUCTION: CDKL5-related encephalopathy is an X-linked dominantly inherited disorder that is characterized by early infantile epileptic encephalopathy or atypical Rett syndrome. We describe a 5-year-old Japanese boy with intractable epilepsy, severe developmental delay, and Rett syndrome-like features. Onset was at 2 months, when his electroencephalogram showed sporadic single poly spikes and diffuse irregular...

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Source

Identifiers

PMID: 25819767
DOI: 10.1016/j.braindev.2015.03.002

Genes

CDKL5
KCNQ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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