PedAM
Pediatric Disease Annotations & Medicines
| Disease | epilepsy |
| Phenotype | C0004134|ataxia |
| Sentences | 13 |
| PubMedID- 20301791 | Memsa now includes the disorders previously described as spinocerebellar ataxia with epilepsy (scae). |
| 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- 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- 22999214 | A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17. |
| 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- 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- 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- 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- 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- 24369382 | We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous saudi arabian family. |
| PubMedID- 22696689 | epilepsy in a patient with ataxia caused by vitamin e deficiency. |
| PubMedID- 23215817 | Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (sca13). |
| 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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