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

KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.

Epilepsy & behavior : E&B - 1 Jul 2024

Wong Swee-Hee, Liou Ying-Ming, Yang Jiann-Jou, Lee Inn-Chi

Abstract excerpt

OBJECTIVE: KCNQ2 gene mutation usually manifests as neonatal seizures in the first week of life. Nonsense mutations cause a unique self-limited familial neonatal epilepsy (SLFNE), which is radically different from developmental epileptic encephalopathy (DEE). However, the exact underlying mechanisms remain unclear. METHODS: The proband, along with their mother and grandmother, carried the c.1342C > T...

Read the complete abstract on PubMed

Topics

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

Share to Carbamates
Share to Electroencephalography
Share to Epilepsy, Benign Neonatal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Infant, Newborn

Share to KCNQ2 Potassium Channel

Share to Phenylenediamines

Share to Seizures

Source

Identifiers

PMID: 38788659
DOI: 10.1016/j.yebeh.2024.109798

Genes

KCNQ2
KCNQ3

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.PMID 38788659Read ↗

Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomesSemantic proximity Read ↗

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.Semantic proximity Read ↗

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.Semantic proximity Read ↗

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

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

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Semantic proximity Read ↗

A Novel KCNQ2 Gain-of-Function Variant I134N Causes Severe Developmental and Epileptic Encephalopathy.Semantic proximity Read ↗

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.Semantic proximity Read ↗

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.Semantic proximity Read ↗

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.Semantic proximity Read ↗

KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype.Semantic proximity Read ↗

A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan.Semantic proximity Read ↗

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