Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes—a prospective observational study

• DOI: 10.1093/braincomms/fcad243
• Publication Date: 2023-09-10T19:30:12Z
• Authors: Pooja Agarwala; Bhuvandeep Narang; Thenral S Geetha; Nilesh Kurwale; Praveena L Samson; Tamanna Golani; Udita Mahadevia; Ramprasad Vedam; Sakthivel Murugan; Sagnik Chatterjee; Pradeep Goyal; Vivek Jain
• Keywords: West Syndrome

In this study, we have evaluated the underlying aetiologies, yield of genetic testing and long-term outcomes in patients with early-infantile developmental epileptic encephalopathies. We prospectively studied seizure onset before 3 months age. Based on clinical details, neuroimaging, metabolic comprehensive evaluation, were classified into different aetiological groups. The phenotypic differences between genetic/unknown groups remaining aetiologies compared. Factors that could affect control also assessed. A total 80 children (M:F ratio-1.5:1) recruited. median age was 28 days (range, 1-90 days). confirmed 66 (83%). further four groups: (50%), structural (19%), (14%; all vitamin responsive) unknown (17%). On comparing for groups, 'genetic/unknown' more frequently observed to severe delay (Odds Ratio = 57; P < 0.0001), autistic behaviours 37; tone abnormalities 9; 0.0006) movement disorder 19; 0.0001). Clonic seizures common responsive/structural (Risk 1.36; 0.05) as compared aetiologies. contrary, aetiology less likely tonic 0.66; 0.04). Metabolic diagnostic three out 41 tested (all had biotinidase deficiency). MRI abnormal 35/80 (malformation 16/35; 19/35 non-specific changes did not contribute aetiology). molecular diagnosis achieved 53 77 (69%). Next-generation sequencing a 51%, while microarray 14%. STXBP1 most (five patients) single-gene defect identified. There 24 novel variants. mean follow-up period 30 4-72 months). multivariate logistic regression important factors (seizure age, time lag first visit paediatric neurologist aetiologies), only responsive statistically significant positive effect (P 0.02). Genetic are cause Patients phenotype. epilepsies best probability control.