PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
about
The clinical and genetic heterogeneity of paroxysmal dyskinesias.Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyA Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.The genetic relationship between epilepsy and hemiplegic migraineBenign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case seriesCommon DNA methylation alterations in multiple brain regions in autism.PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patientPhenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosisSingle nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.The use of next-generation sequencing in movement disordersMild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.PRRT2 links infantile convulsions and paroxysmal dyskinesia with migrainePRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia.Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.Non-Parkinson movement disorders: Five new thingsPathway-driven discovery of epilepsy genes.Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.Genetics of the epilepsies: where are we and where are we going?Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Genomic biomarkers of SUDEP in brain and heart.Epilepsy in 2012: Advances in epilepsy shed light on key questions.PRRT2-related disorders: further PKD and ICCA cases and review of the literature.PRRT2 mutations and paroxysmal disorders.Pediatric movement disorders: Five new thingsPrimary and secondary dystonic syndromes: an update.The genetics of dystonia: new twists in an old tale.The molecular biology of genetic-based epilepsies.Episodic movement disorders: from phenotype to genotype and back.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Genetic biomarkers in epilepsy.Epilepsy: old syndromes, new genes.Single-Gene Determinants of Epilepsy Comorbidity.The contribution of next generation sequencing to epilepsy genetics.The evolving spectrum of PRRT2-associated paroxysmal diseases.
P2860
Q26776399-B134C24E-872D-4810-A719-777161827F0DQ28115010-A03A70BF-CA35-4E01-860B-231C91835C14Q30090177-2856E2C7-D2A4-45F0-989E-C59A4DDBEA33Q30528873-BD868CA0-F6DB-4AA4-B0EA-33389471FDC1Q33621149-7894A8CC-81F9-49B4-9DF4-F6FC68B49D75Q33830599-7EB60332-698E-439F-B9ED-B715FD04BD7BQ34287640-8EA36325-F445-48FE-B5CA-98EB76370B80Q34368721-11E4E3E8-0883-462B-9842-CE61CF12673BQ34416651-FF7A6D7F-EFBC-4807-8944-D2D89BA7A098Q34606907-BA576C0E-C9AB-433D-AADD-532940303127Q35076345-66FD4723-CB62-425B-A171-C51BD19AFF9EQ35201817-49211A43-A048-4F09-916A-1761C8BAA022Q35722682-6F395721-06CE-4C11-9F47-FE55AC1BA0F1Q35955394-06551868-BE52-4809-875F-4FCE324E93C4Q36183820-7701D762-D5F5-4967-A1D6-5BF3CBF31547Q36439205-4BC80C2A-B4AC-4BEE-9627-5EB1E8E72637Q36439209-A6D47D20-EEA8-4549-89AF-151F37B34BF8Q36503334-361316D8-BE14-4AA3-B690-9FDC7408D6F5Q36529186-EBCF712D-9A07-4024-B189-ABF83D2EA9BAQ36607672-3D681844-6EC2-4A20-9E92-9020961313EAQ36731540-81B0F916-84AA-4E92-89C8-FC88193F0D63Q36854796-7A27D6F5-4831-48F2-9DF7-5F598F2E65E6Q36856534-B53D38DC-B052-406C-911C-C8A383A00949Q37192766-0F8D5886-CABA-4FD2-A0FE-D719B4A112B7Q37619800-5EE60BFB-0685-472A-A8EA-4810EF70EFD7Q37707209-DBD9E71C-5D15-4762-AA08-2FA97B23C20AQ38072300-CB1480DA-4E2A-488F-BC65-BD14E7195BA6Q38072609-F7D03BD5-0598-4A32-8B3A-BD4649D8429AQ38080580-668D6A64-7B91-4EAE-8B87-685C7129CAE7Q38103261-11F8CF80-49D3-4DB2-B28A-25A877848DECQ38113756-7A7E051C-021D-41B0-B3F2-B422D47B51A5Q38115272-34C2C001-9DB6-40CB-9652-CA8ECF5F2357Q38128240-2F99DE3A-877B-4F4E-9AEF-A6259B57D1FDQ38130456-7229D32A-ECF2-4196-8950-379A207D9D52Q38187700-596A2389-3C7F-4D8E-843A-3FDA9D6FE50EQ38190879-5A1227A6-B5A4-4AA1-8E13-AE5F926130C4Q38205181-DF87C63B-D716-40FE-A0C0-1E7B43E66DBDQ38622672-DFB8AC1E-8368-4C81-86A1-BBA753F2C58DQ38632636-24DCA4D0-D2DA-4BA7-9D63-5F7300011978Q38644996-BCDA2935-1BD2-4A7E-8464-8120488323F7
P2860
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
PRRT2 mutations cause benign f ...... with choreoathetosis syndrome.
@ast
PRRT2 mutations cause benign f ...... with choreoathetosis syndrome.
@en
type
label
PRRT2 mutations cause benign f ...... with choreoathetosis syndrome.
@ast
PRRT2 mutations cause benign f ...... with choreoathetosis syndrome.
@en
prefLabel
PRRT2 mutations cause benign f ...... with choreoathetosis syndrome.
@ast
PRRT2 mutations cause benign f ...... with choreoathetosis syndrome.
@en
P2093
P2860
P50
P1476
PRRT2 mutations cause benign f ...... with choreoathetosis syndrome.
@en
P2093
Alison E Gardner
Bree L Hodgson
Bronwyn E Grinton
Clair Pridmore
Hadassa Goldberg-Stern
Haim Bassan
James N Hughes
James Pelekanos
John C Mulley
P2860
P304
P356
10.1016/J.AJHG.2011.12.003
P407
P50
P577
2012-01-01T00:00:00Z