STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. - Wikidata - awgldk - TriplyDB

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

http://www.wikidata.org/entity/Q49043808

about

The conditional KO approach: Cre/Lox technology in human neurons Analysis of conditional heterozygous STXBP1 mutations in human neurons Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Clinical review of genetic epileptic encephalopathies SPTAN1 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 exocytosis Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.Genetic forms of epilepsies and other paroxysmal disorders Munc18-1 is a molecular chaperone for α-synuclein, controlling its self-replicating aggregation West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 GABRA1 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.

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P2860

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

http://www.wikidata.org/entity/Q49043808

description

2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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name

STXBP1-related encephalopathy ...... ized tremor in three patients.

@en

STXBP1-related encephalopathy ...... ized tremor in three patients.

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type

label

STXBP1-related encephalopathy ...... ized tremor in three patients.

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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.

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J.1528-1167.2011.03163.X

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STXBP1-related encephalopathy ...... lized tremor in three patients

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Aurélia Jacquette

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Benoit Arveiler

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Christel Depienne

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Cyril Mignot

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Delphine Héron

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Dorothée Ville

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Eric LeGuern

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Fanny Morice-Picard

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Isabelle Gourfinkel-An

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Marie-Laure Moutard

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P2860

Conformational switch of syntaxin-1 controls synaptic vesicle fusion

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature

The three stages of epilepsy in patients with CDKL5 mutations

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

Key clinical features to identify girls with CDKL5 mutations

Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Functionally and spatially distinct modes of munc18-syntaxin 1 interaction

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1820-1827

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10.1111/J.1528-1167.2011.03163.X

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10

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Catherine Chiron

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51495750

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