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Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes-A Cohort Study on Clinical Utility.

Clinical genetics - 1 Mar 2026

Fasaludeen Alfiya, Jose Manna, Aswathi U, Banerjee Moinak, Sundaram Soumya, Radhakrishnan Ashalatha, Urulangodi Madhusoodanan, Gupta Dinesh, Nampoothiri Sheela, Menon Ramshekhar N

Abstract excerpt

Studies from the subcontinent on the utility of Whole Exome Sequencing (WES) in electro-clinical phenotypes of childhood-onset drug-resistant epilepsy (DRE) syndromes, particularly the developmental and epileptic encephalopathies (DEE), are rare in the literature. Patients with DRE phenotypes of presumed genetic etiology with an age of onset of epilepsy < 12 years, with/without developmental encephalopathy, were...

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PMID: 40954984
DOI: 10.1111/cge.70061

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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