Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Case presentation: A.B.P., 5 years and 1 month, female, born at term, APGAR 9/10, manifested neuropsychomotor development (NPMD) delay 8 months and, year 3 months, after a fever, she had her first epileptic seizure, with generalized tremor. Since then, has shown regression of NPMD milestones, self-aggression swallowing difficulties. The seizures persisted, occurring up to 6 times day, tonic-clonic myoclonic seizures. In the neurological evaluation, was not very interactive, without fixing gaze, incomprehensible speech, right convergent strabismus, axial appendicular hypotonia, unable sit support. General laboratory tests, amino acid chromatography, urine organic acylcarnitine profile transferrin isoelectrofocalization were unaltered. Electroencephalogram detected acute left temporal waves synchronous symmetrical bilateral spike-wave complex burst. Genetic testing identified pathogenic variant in GABRA1 gene. Treatment started phenobarbital alone later, valproic acid, seizure control. evolution, association latter topiramate clobazam provided satisfactory therapeutic response.