Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This was a prospective analytical study done from October'99 through December 2000 to observe the clinical profile of epilepsy in children with cerebral palsy. Sixty epileptic children with cerebral palsy were studied and their results were compared with the results of epilepsy in 30 developmentally normal children. Ages of all children studied were 1-15 years. Majority were below five years of age and male out numbered female. Spastic quadriplegia (60%) was the commonest type of cerebral palsy. Generalized tonic-clonic seizure (66%) was the commonest seizure type in both groups. Second most common type of seizure was partial (13%) and myoclonic (29%) in developmentally normal and cerebral palsy children respectively. Mental retardation (63%) and speech delay (58%) were the two common associated problems in cerebral palsy patients. Ventriculomegaly (55%) was the commonest computed tomographic findings in cerebral palsy patients. In electro encephalography generalized epileptiform activity was the commonest finding in both groups. Clinical pattern is different in many ways when epilepsy is associated with cerebral palsy.
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PMID:Epilepsy in children with cerebral palsy. 1474 90

Warburg Micro syndrome and Martsolf syndrome are phenotypically overlapping autosomal recessive conditions characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Warburg Micro syndrome, the more severe of the two conditions, is caused by loss of function mutations in RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes, whereas Martsolf syndrome has been attributed to less damaging mutations in RAB3GAP1 and RAB3GAP2 genes. We report the clinical description and molecular characterization of a consanguineous Iranian family with two siblings, a male and a female, with dysmorphic features, bilateral congenital cataracts, optic nerve atrophy, congenital glaucoma, mild to moderate intellectual disability, seizures, hypogonadism, and mild osteoporosis. Spastic quadriplegia with contractures was observed in the male patient, while the female patient showed only mild hyperreflexia. Magnetic resonance imaging scans performed in the male patient showed a normal brain structure. Both siblings had neither microcephaly nor postnatal growth retardation. Whole exome sequencing identified a novel homozygous nonsense mutation [c.1060C>T; p.(Arg354Ter)] in the TBC1D20 gene in both siblings and confirmed the heterozygous carrier status of both parents. This report describes a novel mutation in the TBC1D20 gene in two Iranian patients with Martsolf syndrome, further extending the allelic heterogeneity and phenotypic spectrum of this rare condition. The genotype and phenotype of the patients are compared with those of Martsolf syndrome and Warburg Micro syndrome patients reported in the literature.
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PMID:Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. 3216 91