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

Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.

Seizure - 1 Mar 2024

Çapan Özlem Yalçın, Türkdoğan Dilşad, Atalay Sertaç, Çağlayan Hande S

Abstract excerpt

PURPOSE: Developmental and Epileptic Encephalopathies (DEEs) are rare neurological disorders characterized by early-onset medically resistant epileptic seizures, structural brain malformations, and severe developmental delays. These disorders can arise from mutations in genes involved in vital metabolic pathways, including those within the brain. Recent studies have implicated defects in the mitochondrial malate...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases
Share to Epilepsy
Share to Epilepsy, Generalized

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Seizures

Source

Identifiers

PMID: 37977948
DOI: 10.1016/j.seizure.2023.11.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.PMID 37977948Read ↗

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.Semantic proximity Read ↗

Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.Semantic proximity Read ↗

Advances in genetic etiology, diagnosis and treatment of developmental and epileptic encephalopathy.Semantic proximity Read ↗

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.Semantic proximity Read ↗

Neurological Presentations in Pediatric Patients with Inborn Errors of Metabolism: A single-center studySemantic proximity Read ↗

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.Semantic proximity Read ↗

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.Semantic proximity Read ↗

Expansion of the Mutation and Phenotype Spectrum of the GABRA2-related developmental and epileptic encephalopathy78Semantic proximity Read ↗

The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.Semantic proximity Read ↗

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.Semantic proximity Read ↗

Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Semantic proximity Read ↗

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.Semantic proximity Read ↗

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