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Article

Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic Behaviour.

JPMA. The Journal of the Pakistan Medical Association - 1 Sept 2023

Chand Prem, Sulaiman Asna, Kirmani Salman

Abstract excerpt

The phenotypically similar genetic diseases Zimmermann Laband syndrome (ZLS) and Temple-Baraitser syndrome (TMBTS) cause neurodevelopmental problems. Mutations in the gene coding for potassium voltage-gated channel, primarily KCNH1, cause these symptoms. An uncommon mutation in KCNH1 (p.Arg357Trp) present on Exon 7, reported to replace arginine with tryptophan at codon 357 of the KCNH1 protein c.1069C>T, caused...

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Identifiers

PMID: 37817707
DOI: 10.47391/JPMA.6766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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