Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
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Advancing epilepsy genetics in the genomic eraLoss of synaptic Zn2+ transporter function increases risk of febrile seizuresGain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophyEpilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.mTORC1 Is a Local, Postsynaptic Voltage Sensor Regulated by Positive and Negative Feedback Pathways.Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.Advances in imaging ultrastructure yield new insights into presynaptic biologyNovel GABRG2 mutations cause familial febrile seizures2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic ConditionsGene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Pharmacological Analysis of the Anti-epileptic Mechanisms of Fenfluramine in scn1a Mutant Zebrafish.Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.The contribution of next generation sequencing to epilepsy genetics.DNM1 encephalopathy: A new disease of vesicle fission.Exploring novel AEDs from drugs used for treatment of non-epileptic disorders.Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes.The role of genetic testing in epilepsy diagnosis and management.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Synaptopathies Heat Up: Mutations in STX1B in Fever-Associated Epilepsies.Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.Linking kindling to increased glutamate release in the dentate gyrus of the hippocampus through the STXBP5/tomosyn-1 gene.Syntaxin 1B is important for mouse postnatal survival and proper synaptic function at the mouse neuromuscular junctions.De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development.Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission.Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.Syntaxin 1B contributes to regulation of the dopaminergic system through GABA transmission in the CNS.The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.The unfolding landscape of the congenital myasthenic syndromes.Rare ABCA7 variants in 2 German families with Alzheimer disease.Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.Identification of genes associated with cortical malformation using a transposon-mediated somatic mutagenesis screen in mice.Zebrafish Models of Rare Hereditary Pediatric Diseases.Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Mutations in STX1B, encoding a ...... associated epilepsy syndromes.
@en
type
label
Mutations in STX1B, encoding a ...... associated epilepsy syndromes.
@en
prefLabel
Mutations in STX1B, encoding a ...... associated epilepsy syndromes.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations in STX1B, encoding a ...... associated epilepsy syndromes.
@en
P2093
Aleksandra Siekierska
Alexander D Crawford
Amit Kawalia
Angela Kecskés
Arvid Suls
Benoit Martin
Bernard Kohl
Bobby P C Koeleman
Carolien G F de Kovel
Clément Huneau
P2860
P2888
P304
P356
10.1038/NG.3130
P407
P50
P577
2014-11-02T00:00:00Z
P5875
P6179
1010412367