Early Infantile SCN1A Epileptic Encephalopathy: Expanding the Genotype-Phenotype Correlations

Seizure : the journal of the British Epilepsy Association - United Kingdom
doi 10.1016/j.seizure.2019.01.002
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

Expanding the Phenotype Half of the Genotype−phenotype Space

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2016English

Epileptic Encephalopathy

Journal of Child Neurology
Child HealthNeurologyPediatricsPerinatology
2016English

Phenotype-Genotype Correlations in X Linked Retinitis Pigmentosa.

Journal of Medical Genetics
Genetics
1992English

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

npj Genomic Medicine
GeneticsMolecular Biology
2019English

SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital

Journal of Pediatric Epilepsy
2015English

Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations

Thorax
PulmonaryRespiratory Medicine
2003English

Expanding the Phenotype of DST‐related Disorder: A Case Report Suggesting a Genotype/Phenotype Correlation

American Journal of Medical Genetics, Part A
Genetics
2019English

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Journal of Developmental and Behavioral Pediatrics
DevelopmentalMental HealthChild HealthEducational PsychologyPerinatologyPsychiatryPediatrics
2010English

Genotype-Phenotype Correlations in Type B Niemann-Pick Disease • 725

Pediatric Research
Child HealthPediatricsPerinatology
1998English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy