epilepsy with myoclonic atonic seizures
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
MONDO:0019216
inborn disorder of amino acid transport
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0100545
hereditary neurological disease
is_a
MONDO:0800500
childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy
is_a
Doose syndrome
exact
EMAS
exact
EMAtS
exact
MAE
exact
Myoclonic Atonic Epilepsy
exact
epilepsy with myoclonic atonic seizures
exact
epilepsy with myoclonic-astatic seizures
exact
epilepsy with myoclonic-atonic seizures
exact
epilepsy with myoclono-astatic crisis
related
myoclonic astatic epilepsy
related
myoclonic atonic epilepsy
exact
myoclonic-astatic epilepsy in early childhood
exact
myoclonic-atonic epilepsy
exact