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

Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern.

Epilepsy research - 1 Jul 2020

Lee Sangbo, Kim Se Hee, Kim Borahm, Lee Seung-Tae, Choi Jong Rak, Kim Heung Dong, Lee Joon Soo, Kang Hoon-Chul

Abstract excerpt

BACKGROUND: Early-onset epileptic encephalopathies with burst suppression (EOEE-BS) are a group of neonatal epileptic syndromes characterized by intractable epilepsy and severe psychomotor delay with structural and metabolic factors accounting for major etiologies. However, recent advances in gene sequencing have identified that genetic factors might also play a significant role in the development of EOEE-BS....

Topics

Join the communities discussing this publication.

Brain
Brain Diseases
Electroencephalography
Genetic Testing
GTP-Binding Protein alpha Subunits, Gi-Go

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32247221
DOI: 10.1016/j.eplepsyres.2020.106323

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

Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern.PMID 32247221Read ↗

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.Semantic proximity Read ↗

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.Semantic proximity Read ↗

Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy.Semantic proximity Read ↗

Phenotypic Spectrum and Long-term Outcome in Children With Genetic Causes of Early-onset Epileptic EncephalopathySemantic proximity Read ↗

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.Semantic proximity Read ↗

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.Semantic proximity Read ↗

Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.Semantic proximity Read ↗

Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesSemantic proximity Read ↗

Clinical review of genetic epileptic encephalopathies.Semantic proximity Read ↗

Phenotypic and genotypic characteristics of children STXBP1-related disorders.Semantic proximity Read ↗

Epilepsy of Infancy With Migrating Focal Seizures (EIMFS): Expansion of Clinical Phenotypic And Genotypic SpectraSemantic proximity Read ↗

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.Semantic proximity Read ↗

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