(PDF) Early-Onset Epileptic Encephalopathy and Severe

Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2

Epilepsia Open - United States

doi 10.1002/epi4.12085

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November 23, 2017

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Wiley

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Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2

Epilepsia Open - United States

doi 10.1002/epi4.12085

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Pathogenic Mutations in ARX, CDKL5 and STXBP1 Genes Are Not Associated With the Early-Onset Epileptic Encephalopathy in Malaysian Pediatric Patients: A Pilot Study

Early-Onset Epileptic Encephalopathy Caused by Gain-Of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant