Article
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Epilepsy research - 1 Oct 2020
Mitta Nandini, Menon Ramshekhar N, McTague Amy, Radhakrishnan Ashalatha, Sundaram Soumya, Cherian Ajith, Madhavilatha G K, Mannan Ashraf U, Nampoothiri Sheela, Thomas Sanjeev V
Abstract excerpt
INTRODUCTION: A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield of genetic testing in identifying potential disease causing variants in electro-clinical phenotypes of DEE METHODS: An observational hospital-based study was undertaken on children with...
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