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

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019

He Na, Lin Zhi-Jian, Wang Jie, Wei Feng, Meng Heng, Liu Xiao-Rong, Chen Qian, Su Tao, Shi Yi-Wu, Yi Yong-Hong, Liao Wei-Ping

Abstract excerpt

Epileptic encephalopathies comprise a group of catastrophic epilepsies with heterogeneous genetic etiology. Although next-generation sequencing techniques can reveal a number of de novo variants in epileptic encephalopathies, evaluating the pathogenicity of these variants can be challenging. Determining the pathogenic potential of genes in epileptic encephalopathies is critical before evaluating the pathogenicity...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Association Studies
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genotype

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Phenotype

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 29895856
DOI: 10.1038/s41436-018-0011-y
PMCID: PMC6752304

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

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.PMID 29895856Read ↗

Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.Semantic proximity Read ↗

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.Semantic proximity Read ↗

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice.Semantic proximity Read ↗

Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesSemantic proximity Read ↗

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.Semantic proximity Read ↗

Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies.Semantic proximity Read ↗

Clinical review of genetic epileptic encephalopathies.Semantic proximity Read ↗

Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies.Semantic proximity Read ↗

Epilepsy: old syndromes, new genes.Semantic proximity Read ↗

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathySemantic proximity Read ↗

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathiesSemantic proximity Read ↗

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.Semantic proximity Read ↗

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