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PedAM

Pediatric Disease Annotations & Medicines




Disease epilepsy
Symptom C0004134|ataxia
Sentences 11
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- 22696689 epilepsy in a patient with ataxia caused by vitamin e deficiency.
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- 20301774 Prickle1-related progressive myoclonus epilepsy (pme) with ataxia is characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, varying degrees of neurologic decline especially manifest as ataxia, and normal intellectual abilities.
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 .
PubMedID- 23215817 Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (sca13).
PubMedID- 24369382 The tumour suppressor gene wwox is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
PubMedID- 25060828 Further biologic validation is necessary to fully characterize the pathogenic mechanisms that explain the phenotypic causes of epilepsy with ataxia in these patients.
PubMedID- 26374734 Sca10 is an autosomal dominant ataxia often accompanied with epilepsy caused by an expansion of a pentanucleotide (attct) repeat in intron 9 of atxn10.
PubMedID- 22999214 A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17.
PubMedID- 20301791 Memsa now includes the disorders previously described as spinocerebellar ataxia with epilepsy (scae).

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