Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after Down's syndrome. In order to determine the prevalence of seizures and the frequency of specific neurological features, we studied a total of 17 patients with the fragile X syndrome. 41% had grand mal seizures; 41% had extensor plantar responses; 47% had hyperactive behaviour and 65% exhibited stereotypics; 59% had incoordination and 35% had blepharospasm. We emphasise the need for chromosome analysis of patients with unexplained mental retardation, specific phenotypic abnormalities, and large testes.
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PMID:Neurological findings in patients with the fragile-X syndrome. 392 Mar 55

Lindane (gamma-benzene hexachloride) is widely used as a scabicide by general practitioners and dermatologists in Pakistan. We present a case of a 7 year old boy who had suffered from scabies 1 week ago, for which he was prescribed lindane along with other medications by a general practitioner. After 3 application of lindane the child began to experience Grand mal seizures, ataxia, weakness, incoordination and severe burning paresthesias. Lindane is known to cause neurotoxicity and for this it has been recommended as a 2nd line treatment for scabies by FDA.
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PMID:Lindane toxicity in a 7 year old boy. 2245 4