Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

7 Jun 2019

Abstract excerpt

A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability. We identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetics and Neurodevelopmental Disorders
Share to Genomics and Rare Diseases
Share to Glycogen Storage Diseases and Myoclonus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31353862
DOI: 10.1002/acn3.50799

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrumPMID 31353862Read ↗

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

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlationsSemantic proximity Read ↗

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypesSemantic 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 ↗

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

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

Novel KCNB1 mutation associated with non-syndromic intellectual disability.Semantic proximity Read ↗

A KCNC1‐related neurological disorder due to gain of Kv3.1 functionSemantic proximity Read ↗

<i>KCNMA1</i> -linked channelopathySemantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.