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

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

Epilepsy & behavior : E&B - 1 Mar 2021

Moya-Mendez Mary E, Mueller David M, Pratt Milton, Bonner Melanie, Elliott Courtney, Hunanyan Arsen, Kucera Gary, Bock Cheryl, Prange Lyndsey, Jasien Joan, Keough Karen, Shashi Vandana, McDonald Marie, Mikati Mohamad A

Abstract excerpt

BACKGROUND: ATP1A2 mutations cause hemiplegic migraine with or without epilepsy or acute reversible encephalopathy. Typical onset is in adulthood or older childhood without subsequent severe long-term developmental impairments. AIM: We aimed to describe the manifestations of early onset severe ATP1A2-related epileptic encephalopathy and its underlying mutations in a cohort of seven patients. METHODS: A...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Brain Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Epilepsy

Share to Mutation

Share to Sodium-Potassium-Exchanging ATPase

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33493807
DOI: 10.1016/j.yebeh.2020.107732
PMCID: PMC7940561

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

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.PMID 33493807Read ↗

Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.Semantic proximity Read ↗

A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.Semantic proximity Read ↗

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.Semantic proximity Read ↗

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorderSemantic proximity Read ↗

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.Semantic proximity Read ↗

New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.Semantic proximity Read ↗

Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review.Semantic proximity Read ↗

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.Semantic proximity Read ↗

The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.Semantic proximity Read ↗

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

[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].Semantic proximity Read ↗

Adult phenotype of KCNQ2 encephalopathy.Semantic proximity Read ↗

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