Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
about
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic studyA locus for febrile seizures (FEB3) maps to chromosome 2q23-24GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorderCo-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events.Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.RBFOX1 and RBFOX3 mutations in rolandic epilepsyRecent advances in the genetics of epilepsy: insights from human and animal studies.Paroxysmal dyskinesias in miceLinkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.Treatment of paroxysmal dyskinesias.Diagnosis and treatment of paroxysmal dyskinesias revisitedParoxysmal dyskinesias.Idiopathic epilepsy and paroxysmal dyskinesia.Genetics of inherited human epilepsiesDysgraphia as a Mild Expression of Dystonia in Children with Absence EpilepsyGenetic focal epilepsies: state of the art and paths to the future.Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.Evaluating candidate genes in common epilepsies and the nature of evidenceA microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy."Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.Episodic movement disorders: from phenotype to genotype and back.The evolving spectrum of PRRT2-associated paroxysmal diseases.A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl.Phenotypic analysis of 303 multiplex families with common epilepsies.Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.Early-onset absence epilepsy and paroxysmal dyskinesia.16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.Benign familial infantile seizures: further delineation of the syndrome.Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD geneClinical genetic studies in benign childhood epilepsy with centrotemporal spikes
P2860
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P2860
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
Autosomal recessive rolandic e ...... ping to chromosome 16p12-11.2.
@ast
Autosomal recessive rolandic e ...... ping to chromosome 16p12-11.2.
@en
type
label
Autosomal recessive rolandic e ...... ping to chromosome 16p12-11.2.
@ast
Autosomal recessive rolandic e ...... ping to chromosome 16p12-11.2.
@en
prefLabel
Autosomal recessive rolandic e ...... ping to chromosome 16p12-11.2.
@ast
Autosomal recessive rolandic e ...... ping to chromosome 16p12-11.2.
@en
P2093
P2860
P1433
P1476
Autosomal recessive rolandic e ...... ping to chromosome 16p12-11.2.
@en
P2093
A Ballabio
L Parmeggiani
M De Fusco
M Piccirilli
N Nardocci
R Carrozzo
R Guerrini
P2860
P304
P356
10.1002/1531-8249(199903)45:3<344::AID-ANA10>3.0.CO;2-9
P50
P577
1999-03-01T00:00:00Z