PedAM

Pediatric Disease Annotations & Medicines

Disease	epilepsy
Phenotype	C0007758\|cerebellar ataxia
Sentences	9
PubMedID- 20301791	Memsa now includes the disorders previously described as spinocerebellar ataxia with epilepsy (scae).
PubMedID- 25866756	Previous reports have presented the heterogeneous clinical features of sca17 which included cerebellar ataxia with dementia, epilepsy, psychosis, and abnormal movement disorders including chorea, dystonia, and parkinsonism [20, 42, 44].
PubMedID- 25660390	Mutations in the polymerase gamma-1 (polg1) gene, encoding the catalytic subunit of the mtdna-specific polymerase-gamma, compromise the stability of mitochondrial dna (mtdna) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (peo), sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (sando), spinocerebellar ataxia with epilepsy (scae) and alpers syndrome.
PubMedID- 26189493	The patient displayed a severe phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, attention deficit hyperactivity disorder, strabismus, oral apraxia and joint hyperlaxity.
PubMedID- 21531163	The phenotype described in mexico, is characterized by the association of cerebellar ataxia with epilepsy, while in brazil the sca10 phenotype is that of a pure cerebellar ataxia.
PubMedID- 24369382	The tumour suppressor gene wwox is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
PubMedID- 23215817	Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (sca13).
PubMedID- 21867371	These syndromes are variably referred to as spinocerebellar ataxia with epilepsy (scae), myoclonic epilepsy myopathy sensory ataxia (memsa), sensory ataxia, neuropathy, dysarthria, ophthalmoplegia (sando), or mitochondrial recessive ataxia syndrome (miras).
PubMedID- 22999214	A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17.

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