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EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (EIG10)

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (EIG10)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO, INCLUDED; GEFS5, INCLUDED
613060
OMIM = Online Mendelian Inheritance of Men
36387
Gamma-aminobutyric acid receptor subunit delta
1p36.33
G40.3
rare
autosomal recessive
variation in the GABRD gene
Laboratory findings    no metabolic abnormalities (urine)
Symptoms    myoclonus
    onset, childhood
    onset, infancy
    seizures