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

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.

Brain & development - 1 Apr 2014

Torisu Hiroyuki, Watanabe Kyoko, Shimojima Keiko, Sugawara Midori, Sanefuji Masafumi, Ishizaki Yoshito, Sakai Yasunari, Yamashita Hironori, Yamamoto Toshiyuki, Hara Toshiro

Abstract excerpt

This paper documents the case of a female Japanese patient with infantile focal epilepsy, which was different from benign infantile seizures, and a family history of infantile convulsion and paroxysmal choreoathetosis. The patient developed partial seizures (e.g., psychomotor arrest) at age 14 months. At the time of onset, interictal electroencephalography (EEG) showed bilateral parietotemporal spikes, but the...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Partial

Share to Family

Share to Infant

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Source

Identifiers

PMID: 23768507
DOI: 10.1016/j.braindev.2013.05.009

Genes

PRRT2

Variants

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

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.PMID 23768507Read ↗

A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy.Semantic proximity Read ↗

PRRT2 is mutated in familial and non-familial benign infantile seizures.Semantic proximity Read ↗

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.Semantic proximity Read ↗

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).Semantic proximity Read ↗

PRRT2 mutation in Japanese children with benign infantile epilepsy.Semantic proximity Read ↗

Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.Semantic proximity Read ↗

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.Semantic proximity Read ↗

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.Semantic proximity Read ↗

PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers.Semantic proximity Read ↗

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.Semantic proximity Read ↗

[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy].Semantic proximity Read ↗

Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.Semantic proximity Read ↗

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