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Article

De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.

Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2015

Zhang Zhong-Bin, Tian Mao-Qiang, Gao Kai, Jiang Yu-Wu, Wu Ye

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26195193
DOI: 10.1002/mds.26216

Genes

KCNMA1

Provenance

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

Related research

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De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.PMID 26195193Read ↗

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesSemantic proximity Read ↗

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.Semantic proximity Read ↗

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.Semantic proximity Read ↗

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureSemantic proximity Read ↗

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrumSemantic proximity Read ↗

Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variant.Semantic proximity Read ↗

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.Semantic proximity Read ↗

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract AtrophySemantic proximity Read ↗

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.Semantic proximity Read ↗

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsySemantic proximity Read ↗

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.Semantic proximity Read ↗

Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.Semantic proximity Read ↗

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