ICNC Abstracts, ICNC 2018

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Clinical and Genetic Correlation in Childhood Onset Pharmacoresistant Epilepsy
Ami Shah, Neeta Naik, Abhinav Sahu, Abhinav Tiwari Tiwari

Last modified: 2018-09-09


Method: We conducted retrospective review of genetic results in 20 children with pharmacoresistant epilepsy.

Results: There were 12 females (F) and 8 males (M). Fifteen were positive -12 single gene mutations (7 pathogenic, 5 VUSĀ­) and 3 chromosomal anomalies with genotypic phenotypic correlation in 14. Amongst those positive - 10 were females, 12 had onset below 2 years, 5 had combined epilepsy, 8 showed severe ID and 8 had epileptic and developmental encephalopathy (EE&DE).

Epilepsy syndromes were diagnosed in 6. Four had single seizure type with normal development - febrile & afebrile focal motor seizures (1-SCN1A), myoclonic atonic seizures with multiple daily head drops (2- SLC6A1, PRICKLE 1) and generalized tonic, clonic (GTC) seizures (1 male -CACNA1H). Two had multiple seizure types with severe ID and Autism - Epileptic spasm (ES) with GTC (1 -ALG13) and myoclonic atonic with non-convulsive status (1-SMC1A).

Metabolic disorders were identified in 5 - Abetalipoproteinemia, Ribose- 5-Phosphate Isomerase Deficiency, Hypomagnesemia with mental retardation and seizures in 1 each and Glucose 1 Transporter Deficiency (GLUT1) in 2. Myoclonic atonic seizures were predominant in GLUT1.

Chromosomal anomalies leading to early onset epilepsy, severe developmental impairment, dysmorphism with normal MRI were seen in 3 females. Generalized atonic infrequent seizures (1q44 deletion Syndrome) in 1 and focal clonic seizures with ES (1p36 deletion Syndrome) and MJ (9q duplication syndrome) in 1 each.

Conclusion: Female gender, early onset, severe ID, combined epilepsy and EE&DE were associated with positive genetic test results and may emerge as predictors of genetic epilepsy.


Childhood onset, Epilepsy, Pharmacoresistant, Genetics

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