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

[Research progress on DEPDC5 gene related epilepsy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2022

Shen M X, Ji X N, Liu A J, Chen Q

Abstract excerpt

DEPDC5基因相关癫痫是哺乳动物雷帕霉素靶蛋白（mTOR）通路相关病。该病呈常染色体显性遗传，临床表型异质性大，轻者表现为无症状携带者，重者可发生癫痫性猝死，有多种癫痫发作类型，伴或不伴皮质发育畸形，抗癫痫药物治疗反应欠佳。本文对DEPDC5基因相关癫痫的临床特征、发病机制及治疗进展进行综述。.

Read the complete abstract on PubMed

Topics

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

Share to Epilepsies, Partial
Share to Epilepsy
Share to GTPase-Activating Proteins
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36319166
DOI: 10.3760/cma.j.cn112140-20220415-00333

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Research progress on DEPDC5 gene related epilepsy].PMID 36319166Read ↗

DEPDC5 does it all: shared genetics for diverse epilepsy syndromes.Semantic proximity Read ↗

Clinical characteristics and genetic analysis of DEPDC5 gene variants related epilepsy in Chinese childrenSemantic proximity Read ↗

DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.Semantic proximity Read ↗

Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.Semantic proximity Read ↗

[Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].Semantic proximity Read ↗

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.Semantic proximity Read ↗

Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature ReviewSemantic proximity Read ↗

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.Semantic proximity Read ↗

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.Semantic proximity Read ↗

DEPDC5 takes a second hit in familial focal epilepsy.Semantic proximity Read ↗

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutationSemantic proximity Read ↗

[Developmental delay and seizures with or without movement abnormalities associated with DHDDS gene variant in 3 children].Semantic proximity Read ↗

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