Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.
about
A preliminary study of copy number variation in TibetansPRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.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.PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraineGenetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.
P2860
Q21134117-CE760F3C-89A0-4D4C-A2D8-5FDD4C066255Q30528874-C604A112-2794-450B-9E0F-731A8BBDFEA5Q35671504-4C22F33E-DD70-41C3-AF1B-CE2BB0AB2D07Q35906678-86029DE4-FE34-4833-AE4C-321661FA934AQ36439205-7B6EF19C-30E4-4F99-BA08-A3A92F98EAFDQ36503334-0B07BF08-4808-4C6A-B339-2C990DD8338AQ39284194-3C51AF27-38D2-469B-AAC9-06C9ADBAC73DQ42655759-90D8B07A-A1B6-4E7F-A087-B0D94FD88AF1Q47948174-5CE7896B-B02A-4457-8706-F755305456A3Q50662072-F07FFE6E-F75C-435C-B1DD-2BD5B1D7FADB
P2860
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Infantile convulsions with par ...... ion at human chromosome 16p11.
@ast
Infantile convulsions with par ...... ion at human chromosome 16p11.
@en
type
label
Infantile convulsions with par ...... ion at human chromosome 16p11.
@ast
Infantile convulsions with par ...... ion at human chromosome 16p11.
@en
prefLabel
Infantile convulsions with par ...... ion at human chromosome 16p11.
@ast
Infantile convulsions with par ...... ion at human chromosome 16p11.
@en
P2093
P2860
P50
P1433
P1476
Infantile convulsions with par ...... ion at human chromosome 16p11.
@en
P2093
Andrée Robaglia-Schlupp
Annick Massacrier
Audrey Labalme
Gaëtan Lesca
Jacques Rochette
Jennifer Cillario
Marc Délepine
Nadine Bruneau
Philippe Dessen
Pierre Szepetowski
P2860
P304
P356
10.1371/JOURNAL.PONE.0013750
P407
P577
2010-10-29T00:00:00Z