Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait
about
Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipaseFamilial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16Advances in genetics of juvenile myoclonic epilepsiesMapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsyChildhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsyGenetics of inherited human epilepsiesLinkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this regionThe state of the art in the genetic analysis of the epilepsiesDNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.Evaluating candidate genes in common epilepsies and the nature of evidenceStructural brain abnormalities in juvenile myoclonic epilepsy patients: volumetry and voxel-based morphometry.Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children.
P2860
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P2860
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Juvenile myoclonic epilepsy lo ...... d electroencephalography trait
@ast
Juvenile myoclonic epilepsy lo ...... d electroencephalography trait
@en
type
label
Juvenile myoclonic epilepsy lo ...... d electroencephalography trait
@ast
Juvenile myoclonic epilepsy lo ...... d electroencephalography trait
@en
prefLabel
Juvenile myoclonic epilepsy lo ...... d electroencephalography trait
@ast
Juvenile myoclonic epilepsy lo ...... d electroencephalography trait
@en
P2093
P2860
P1476
Juvenile myoclonic epilepsy lo ...... d electroencephalography trait
@en
P2093
A V Delgado-Escueta
J M Serratosa
J M Spellman
M E Alonso
M T Medina
P2860
P304
P407
P577
1995-08-01T00:00:00Z