STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
about
The conditional KO approach: Cre/Lox technology in human neuronsAnalysis of conditional heterozygous STXBP1 mutations in human neuronsGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingNovel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Clinical review of genetic epileptic encephalopathiesSPTAN1 encephalopathy: distinct phenotypes and genotypes.Emerging role of the KCNT1 Slack channel in intellectual disability.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?The trans-SNARE-regulating function of Munc18-1 is essential to synaptic exocytosisEarly Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.Genetic forms of epilepsies and other paroxysmal disordersMunc18-1 is a molecular chaperone for α-synuclein, controlling its self-replicating aggregationWest syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.Latest American and European updates on infantile spasms.The genetics of the epilepsies.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.STXBP1 as a therapeutic target for epileptic encephalopathy.Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.Head stereotypies in STXBP1 encephalopathy.Epileptic Encephalopathies as Neurodegenerative Disorders.Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.A novel STXBP1 mutation causes focal seizures with neonatal onset.A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.Identification of novel genetic causes of Rett syndrome-like phenotypes.Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
P2860
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P2860
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
STXBP1-related encephalopathy ...... ized tremor in three patients.
@en
STXBP1-related encephalopathy ...... ized tremor in three patients.
@nl
type
label
STXBP1-related encephalopathy ...... ized tremor in three patients.
@en
STXBP1-related encephalopathy ...... ized tremor in three patients.
@nl
prefLabel
STXBP1-related encephalopathy ...... ized tremor in three patients.
@en
STXBP1-related encephalopathy ...... ized tremor in three patients.
@nl
P2093
P2860
P50
P1433
P1476
STXBP1-related encephalopathy ...... lized tremor in three patients
@en
P2093
Aurélia Jacquette
Benoit Arveiler
Christel Depienne
Cyril Mignot
Delphine Héron
Dorothée Ville
Eric LeGuern
Fanny Morice-Picard
Isabelle Gourfinkel-An
Marie-Laure Moutard
P2860
P304
P356
10.1111/J.1528-1167.2011.03163.X
P577
2011-07-18T00:00:00Z