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

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

Epilepsy research - 1 Oct 2003

Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O

Abstract excerpt

Myoclonic astatic epilepsy (MAE) is a genetically determined condition of childhood onset characterized by multiple generalized types of seizures including myoclonic astatic seizures, generalized spike waves and cognitive deterioration. This condition has been reported in a few patients in genera...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to DNA
Share to Epilepsies, Myoclonic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy, Generalized

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Nerve Tissue Proteins

Share to Seizures, Febrile

Share to Sodium Channels

Source

Identifiers

PMID: 14642997
DOI: 10.1016/j.eplepsyres.2003.08.007

Genes

GABRG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14642997-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.PMID 14642997Read ↗

Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).Semantic proximity Read ↗

A Novel Locus for Generalized Epilepsy With Febrile Seizures Plus in French FamiliesSemantic proximity Read ↗

GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families.Semantic proximity Read ↗

Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus).Semantic proximity Read ↗

Generalized epilepsy with febrile seizures plusSemantic proximity Read ↗

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?Semantic proximity Read ↗

Progress in searching for the febrile seizure susceptibility genes.Semantic proximity Read ↗

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.Semantic proximity Read ↗

Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.Semantic proximity Read ↗

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.Semantic proximity Read ↗

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.Semantic proximity Read ↗

Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus.Semantic proximity Read ↗

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