Open AccessGABRB3 mutation as a cause of Ohtahara syndrome: A case report
Author(s) -
Mohini Bhelo,
Harshita Jagwani,
Swapan Mukherjee,
Hriday De,
Apurbo Ghosh
Publication year - 2021
Publication title -
indian journal of case reports
Language(s) - English
Resource type - Journals
eISSN - 2454-1303
pISSN - 2454-129X
DOI - 10.32677/ijcr.v7i11.3112
Subject(s) - medicine , refractory (planetary science) , electroencephalography , pediatrics , anesthesia , epilepsy , compound heterozygosity , encephalopathy , west syndrome , mutation , gene , psychiatry , genetics , biology , physics , astrobiology
Ohtahara syndrome (OS) is a rare early infantile epileptic encephalopathy that is characterized by an abnormal electroencephalogram (EEG) and intractable seizures. The patient of this reported case is a 4-month-old male infant delivered by cesarean section with an uneventful antenatal and neonatal period. At 2 months of age, he developed seizures that were refractory to anticonvulsants. Prolonged video EEG showed a characteristic suppression-burst pattern. We report an infant OS associated with heterozygous mutation in the GABRB3 gene.