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Article

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

17 Nov 2014

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Share to Genetics and Neurodevelopmental Disorders
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Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25401298
DOI: 10.1038/ng.3144

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyPMID 25401298Read ↗

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

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutationSemantic proximity Read ↗

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.Semantic proximity Read ↗

Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutationSemantic proximity Read ↗

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

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.Semantic proximity Read ↗

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 ↗

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

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.Semantic proximity Read ↗

De novo KCNB1 mutations in epileptic encephalopathy.Semantic proximity Read ↗

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

Mesial temporal lobe epilepsy associated with KCNT1 mutation.Semantic proximity Read ↗

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