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Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

http://www.wikidata.org/entity/Q41612845

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Neonatal Seizures: Impact on Neurodevelopmental Outcomes Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

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P2860

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

http://www.wikidata.org/entity/Q41612845

description

2014 nî lūn-bûn

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

@zh-tw

2014年论文

@wuu

2014年论文

@zh

2014年论文

@zh-cn

name

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

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type

label

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

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Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

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FPED.2014.00136

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Frontiers in pediatrics

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Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

@en

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Charlotte Dalen Meurs-van der Schoor

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Hanneke Ronner

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Marianna Bugiani

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Marjan van Kempen

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Mirjam van Weissenbruch

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R Jeroen Vermeulen

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P2860

A potassium channel mutation in neonatal human epilepsy

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

International consensus classification of hippocampal sclerosis in temporal lobe epilepsy: a Task Force report from the ILAE Commission on Diagnostic Methods

Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.

Neonatal seizures with tonic clonic sequences and poor developmental outcome.

High-throughput, automated quantification of white matter neurons in mild malformation of cortical development in epilepsy

Terminology and classification of the cortical dysplasias.

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

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136

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scholarly article

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10.3389/FPED.2014.00136

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2

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Eleonora Aronica

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2014-12-19T00:00:00Z

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270661660

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25566516

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4271583

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