GABRB2 epilepsy has a range of phenotypes from febrile seizures to severe developmental disabilities, epileptic encephalopathies and movement disorders. Recent studies document 25 or fewer cases each. The cause of disease is believed to be loss of GABAergic inhibition.
GABRB2 Clinical Features
Children and young adults with GABRB2 epilepsy often experience frequent, intractable seizures (sometimes upwards of 100 per day), movement disorders, hypotonia, severe developmental delays and regression, frequent respiratory illness, hypotonia, spasticity, cortical-visual impairment, are non-verbal or have limited speech, feeding challenges, and sleep disorders.