Condition: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2


rs1554093884 in GABRB2 gene and EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 PMID 25124326 2014 A novel variant in GABRB2 associated with intellectual disability and epilepsy.

PMID 27789573 2017 A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.