Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy. - Wikidata - awgldk - TriplyDB

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

http://www.wikidata.org/entity/Q38566303

about

Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay An integrative in silico system for predicting dysregulated genes in the human epileptic focus: Application to SLC transporters.Clinical Manifestations and Amplitude-integrated Encephalogram in Neonates with Early-onset Epileptic Encephalopathy.Mutations of PTPN23 in developmental and epileptic encephalopathy.Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.Type and etiology of pediatric epilepsy in Jordan. A multi-center study.Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.Epileptogenesis in neonatal brain.Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel.Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy

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P2860

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

http://www.wikidata.org/entity/Q38566303

description

2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

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Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

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Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

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Journal of Child Neurology

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Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

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Derya Erçal

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P2860

Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

De novo mutations in epileptic encephalopathies

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

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

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

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

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523-532

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scholarly article

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10.1177/0883073815599262

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4

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