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Summary
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (EIG10)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO, INCLUDED GEFS5, INCLUDED
613060
OMIM = Online Medalian Inheritance of Men
36387
1p36.33
rare
autosomal recessive
variation in the GABRD gene
symptoms
myoclonus
onset, childhood
onset, infancy
seizures
laboratory finding
no metabolic abnormalities urine
Literature
Padidela R,et al.Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosumJ Clin Endocrinol Metab9482686-26912009
Ratbi I,et al.The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan originAnn Saudi Med352170-1722015