Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.
about
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosisPRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.PRRT2 mutations are related to febrile seizures in epileptic patients.PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.The use of next-generation sequencing in movement disordersPRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
P2860
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P2860
Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Genetics of infantile seizures ...... A) and ICCA-related syndromes.
@ast
Genetics of infantile seizures ...... A) and ICCA-related syndromes.
@en
Genetics of infantile seizures ...... onvulsions and choreoathetosis
@nl
type
label
Genetics of infantile seizures ...... A) and ICCA-related syndromes.
@ast
Genetics of infantile seizures ...... A) and ICCA-related syndromes.
@en
Genetics of infantile seizures ...... onvulsions and choreoathetosis
@nl
prefLabel
Genetics of infantile seizures ...... A) and ICCA-related syndromes.
@ast
Genetics of infantile seizures ...... A) and ICCA-related syndromes.
@en
Genetics of infantile seizures ...... onvulsions and choreoathetosis
@nl
P356
P1476
Genetics of infantile seizures ...... CA) and ICCA-related syndromes
@en
P2093
J Rochette
P Szepetowski
P304
P356
10.1136/JMG.2008.059519
P407
P50
P577
2008-12-01T00:00:00Z