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

Familial mesial temporal lobe epilepsy phenotype is associated with novel LGI1 variants: A report of two families.

Seizure - 1 Aug 2024

Wang Chengzhe, Guo Xintong, Long Dingju, Li Yinchao, Yuan Cai, Ni Guanzhong, Zhang Heyu, Li Xi, Yin Sijing, Peng Xinxin, Huang Wenyao, Chen Siqing, Liu Yue, Chen Ziyi

Abstract excerpt

OBJECTIVE: To expand the clinical phenotype and mutation spectrum of familial mesial temporal lobe epilepsy (FMTLE) and provide a new perspective for exploring the pathological mechanisms of epilepsy caused by leucine-rich glioma inactivated 1 (LGI1) variants. METHODS: We reported clinical data from two families with FMTLE and screened patients for variants in the LGI1 gene using Whole-exome sequencing and Sanger...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy, Temporal Lobe

Share to Intracellular Signaling Peptides and Proteins

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Young Adult

Source

Identifiers

PMID: 39029408
DOI: 10.1016/j.seizure.2024.07.005

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

Familial mesial temporal lobe epilepsy phenotype is associated with novel LGI1 variants: A report of two families.PMID 39029408Read ↗

<i>LGI1</i>mutations in temporal lobe epilepsiesSemantic proximity Read ↗

The LGI1 protein: molecular structure, physiological functions and disruption-related seizures.Semantic proximity Read ↗

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.Semantic proximity Read ↗

A new locus for familial temporal lobe epilepsy on chromosome 3q.Semantic proximity Read ↗

Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene.Semantic proximity Read ↗

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.Semantic proximity Read ↗

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.Semantic proximity Read ↗

The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine‐rich repeat proteinsSemantic proximity Read ↗

Disruption of LGI1–linked synaptic complex causes abnormal synaptic transmission and epilepsySemantic proximity Read ↗

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene.Semantic proximity Read ↗

[Clinical characteristics and whole exon sequence study of a Chinese family with autosomal dominant lateral temporal lobe epilepsy].Semantic proximity Read ↗

Genetic etiology of new forms of familial epilepsy.Semantic proximity Read ↗

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