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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia
Comorbidity C0014544|epilepsy
Sentences 13
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- 20301774 Prickle1-related progressive myoclonus epilepsy with ataxia
PubMedID- 20156848 In addition, some patients with episodic ataxia complicated by epilepsy have been shown to harbour cacna1a mutations, raising the possibility that p/q channel dysfunction may be linked to human epilepsy.
PubMedID- 24369382 The tumour suppressor gene wwox is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
PubMedID- 22696689 epilepsy in a patient with ataxia caused by vitamin e deficiency.
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.
PubMedID- 20301601 The first symptoms typically appear between age two and four years, usually starting with epilepsy, followed by regression of developmental milestones, myoclonic ataxia, and pyramidal signs.
PubMedID- 23418007 Cln2 disease is characterized by epilepsy, loss of vision, ataxia, and a rapidly progressive course, leading to early death.
PubMedID- 23215817 Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (sca13).
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- 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- 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].

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