Metabolic causes of pediatric developmental & epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort

Inborn errors of metabolism (IEM) are caused by defects in genes involved in biochemical pathways which control metabolism and neuronal function. Although IEM are rare genetic diseases, epilepsy is a common presenting feature.. Early identification and diagnosis is important because some are treatable with variable developmental prognosis [1,2]. Often the epilepsy phenotypes associated with IEM can potentially evolve as developmental and epileptic encephalopathy (DEE). The severity of epilepsy may range from infrequent seizures to anti-seizure medication (ASM) resistant phenotypes including status epilepticus.

Source: Seizure: European Journal of Epilepsy - January 2, 2024 Category: Neurology Authors: Manna Jose, Alfiya Fasaludeen, Harini Pavuluri, Pavan Kumar Rudrabhatla, Soumya V. Chandrasekharan, Jithu Jose, Moinak Banerjee, Soumya Sundaram, Ashalatha Radhakrishnan, Ramshekhar N. Menon Source Type: research