Epilepsy and outcome in FOXG1-related disorders - Wikidata - awgldk - TriplyDB

Epilepsy and outcome in FOXG1-related disorders

Epilepsy and outcome in FOXG1-related disorders

http://www.wikidata.org/entity/Q34695378

about

Delineation of the movement disorders associated withFOXG1mutations: Table 1 Autism spectrum disorder and epilepsy: Disorders with a shared biology.Genetic disorders associated with postnatal microcephaly.The genetics of the epilepsies.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

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Epilepsy and outcome in FOXG1-related disorders

http://www.wikidata.org/entity/Q34695378

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2014 nî lūn-bûn

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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2014 թվականի մայիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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name

Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Epilepsy and outcome in FOXG1-related disorders

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Alex R Paciorkowski

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James Wheless

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Laurie E Seltzer

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Mandy Ma

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Mary Bertrand

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Sohnee Ahmed

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P2860

FOXG1 is responsible for the congenital variant of Rett syndrome

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

The genetics of early telencephalon patterning: some assembly required.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

A retrospective study on aetiology based outcome of infantile spasms.

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1292-1300

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scholarly article

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10.1111/EPI.12648

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8

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55

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William B. Dobyns

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2014-05-16T00:00:00Z

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262388045

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24836831

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4265461

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