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

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.

Brain & development - 1 May 2016

Inui Takehiko, Kobayashi Satoru, Ashikari Yuka, Sato Ryo, Endo Wakaba, Uematsu Mitsugu, Oba Hiroshi, Saitsu Hirotomo, Matsumoto Naomichi, Kure Shigeo, Haginoya Kazuhiro

Abstract excerpt

BACKGROUND: Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have recently been shown to cause severe intellectual disability with early-onset epilepsy. The specific manifestations of mutations in this gene remain unknown. CASE REPORT: We report two cases of severe intellectual disability accompanied by early-onset epilepsy with continuous delta activity evident on electroencephalography. Both cases...

Read the complete abstract on PubMed

Topics

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

Share to Electroencephalography
Share to Epilepsies, Myoclonic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Intellectual Disability

Share to Mutation, Missense

Share to Parietal Lobe

Share to Peptide Elongation Factor 1

Share to Seizures

Source

Identifiers

PMID: 26682508
DOI: 10.1016/j.braindev.2015.11.003

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.PMID 26682508Read ↗

Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.Semantic proximity Read ↗

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.Semantic proximity Read ↗

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.Semantic proximity Read ↗

Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L.Semantic proximity Read ↗

Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members.Semantic proximity Read ↗

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy.Semantic proximity Read ↗

Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.Semantic proximity Read ↗

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).Semantic proximity Read ↗

[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report].Semantic proximity Read ↗

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.Semantic proximity Read ↗

Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation.Semantic proximity Read ↗

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.Semantic proximity Read ↗

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