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

A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.

Molecular medicine reports - 1 Sept 2022

Liu Hai-Feng, Yuan Ting-Yun, Yang Jia-Wu, Li Feng, Wang Fan, Fu Hong-Min

Abstract excerpt

Early‑onset epileptic encephalopathy (EOEE) represents one of the most severe epilepsies, characterized by recurrent seizures during early infancy, electroencephalogram (EEG) abnormalities and varying degrees of neurodevelopmental delay. The KCNQ2 gene has been reported to have a major role in EOEE. In the present study, a 3‑month‑old female infant from the Chinese Lisu minority with EOEE was analyzed. Detailed...

Read the complete abstract on PubMed

Topics

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

Share to Electroencephalography
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to KCNQ2 Potassium Channel

Share to Mutant Proteins

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 35856407
DOI: 10.3892/mmr.2022.12797
PMCID: PMC9364154

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.PMID 35856407Read ↗

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.Semantic proximity Read ↗

Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.Semantic proximity Read ↗

Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.Semantic proximity Read ↗

New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.Semantic proximity Read ↗

Clinical and genetic analysis of 18 patients with KCNQ2mutations from South China.Semantic proximity Read ↗

KCNQ2 related-epilepsy: Report of nine cases and novel loss-of-function missense variantsSemantic proximity Read ↗

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

Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathySemantic proximity Read ↗

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.Semantic proximity Read ↗

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.Semantic proximity Read ↗

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.Semantic proximity Read ↗

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.Semantic proximity Read ↗

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