Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. - sprookjes - yvandenbroek - TriplyDB

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

http://www.wikidata.org/entity/Q33408779

about

Low-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndrome Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Epileptic encephalopathies: new genes and new pathways Protocadherins control the modular assembly of neuronal columns in the zebrafish optic tectum.A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Obtaining genetic testing in pediatric epilepsy Treatment of epileptic encephalopathies Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals Cadherins as targets for genetic diseases.Musicogenic seizures in Dravet syndrome.Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).Epilepsy genetics--past, present, and future Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.Genetically complex epilepsies, copy number variants and syndrome constellations.Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction.Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.Protocadherin-19 and N-cadherin interact to control cell movements during anterior neurulation The hidden genetics of epilepsy-a clinically important new paradigm.Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.PCDH19-related epilepsy in two mosaic male patients.Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.Epilepsy and the new cytogenetics.Non-clustered protocadherin Genetic testing in epilepsy: what should you be doing?Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion.Epileptic encephalopathies in adults and childhood.Genetic forms of epilepsies and other paroxysmal disorders A targeted resequencing gene panel for focal epilepsy.Genetic variations and associated pathophysiology in the management of epilepsy.Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice.X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.

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P2860

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

http://www.wikidata.org/entity/Q33408779

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2009 nî lūn-bûn

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2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2009 թվականի փետրվարին հրատարակված գիտական հոդված

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2009年の論文

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Sporadic infantile epileptic e ...... me but mainly affects females.

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Alexandra Afenjar

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Baya Benyahia

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Boris Keren

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Chloé Quelin

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Christel Depienne

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Cécile Cazeneuve

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Emmanuel Cheuret

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Eric Leguern

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P2860

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Identification and characterization of three members of a novel subclass of protocadherins

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

SCN1A mutations and epilepsy

Epilepsy and mental retardation limited to females: an under-recognized disorder

Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive

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