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Article

[CNKSR2 gene variants causing Houge type of X-linked syndromic intellectual developmental disorder: Seven cases and literature review].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Feb 2026

Duan Haolin, Xiong Juan, Pang Nan, Yin Fei, Peng Jing

Abstract excerpt

OBJECTIVES: Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) caused by CNKSR2 gene variants is a rare neurodevelopmental disorder. Patients commonly present with refractory epilepsy and are prone to developing electrical status epilepticus during sleep (ESES), which may further aggravate cognitive impairment. This study analyzes 7 patients with CNKSR2 gene variants causing MRXSHG,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42244324
DOI: 10.11817/j.issn.1672-7347.2026.240640
PMCID: PMC13229662

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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