Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience-Reference-Cited by-同舟云学术

Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience

Published:2020-10 Issue: Volume:166 Page:106398
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Mitta Nandini,Menon Ramshekhar N,McTague Amy,Radhakrishnan Ashalatha,Sundaram Soumya,Cherian Ajith,Madhavilatha GK,Mannan Ashraf U,Nampoothiri Sheela,Thomas Sanjeev V

Funder

Indian Council for Medical Research, India, vide

NIHR GOSH BRC

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference38 articles.

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1. Evaluation of burden of SCN1A pathogenicity in North Indian children with Dravet syndrome;Seizure: European Journal of Epilepsy;2024-09

2. A retrospective study of the yield of next‐generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0–12 years aged children at a single tertiary care hospital in South India;Epileptic Disorders;2024-06-24

3. Challenges in genetic testing for metabolic causes of developmental epileptic encephalopathy- relevance of genotype-phenotype correlations;Seizure: European Journal of Epilepsy;2024-04

4. Genetic variant interpretation for the neurologist – A pragmatic approach in the next-generation sequencing era in childhood epilepsy;Epilepsy Research;2024-03

5. Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications;Clinical Genetics;2024-02-19