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

CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies

29 Nov 2024

Abstract excerpt

Genetic factors are the major causes of epilepsies, such as developmental and epileptic encephalopathy (DEE) and idiopathic generalized epilepsy (IGE). However, the etiology of most patients remains elusive. This study performed exon sequencing in a cohort of 173 patients with IGE. Additional cases were recruited from the matching platform in China. The excess and damaging effect of variants, the...

Topics

Join the communities discussing this publication.

Epilepsy research and treatment
Genetics and Neurodevelopmental Disorders
Mitochondrial Function and Pathology

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 40330149
DOI: 10.1016/j.gendis.2024.101473

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsiesPMID 40330149Read ↗

Variants in CSMD2 and CSMD3 , genes involved in synaptogenesis, are associated with epilepsiesSemantic proximity Read ↗

Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.Semantic proximity Read ↗

Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.Semantic proximity Read ↗

Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.Semantic proximity Read ↗

Identification of novel causative genes of childhood epileptic encephalopathiesSemantic proximity Read ↗

Uncovering etiologic genes through whole exome sequencing in pediatric epilepsy: A case series from ThailandSemantic proximity Read ↗

[Clinical features of KCNB1 gene variation related developmental and epileptic encephalopathy].Semantic proximity Read ↗

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.Semantic proximity Read ↗

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.Semantic proximity Read ↗

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.Semantic proximity Read ↗

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

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

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