hereditary sensory and motor neuropathy/seizures

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AtikEsè klinikPatant

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6 rezilta yo

[Severe neurological toxicity (coma, convulsions, distal motor neuropathy) secondary to the association of accidental poisoning by isoniazid and a protocol containing high doses of vincristine].

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Authors report the case of a 19 year old metastatic Ewing's sarcoma, prophylactically treated for suspected tuberculosis by Rifampicin and INH. Hepatic failure was induced by accidental overdose of INH. A high dose containing VCR protocol associated, lead to a coma with convulsions and severe motor

[Value of electromyography in the child. Apropos of 1,624 examinations performed over a 3 year period].

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EMG and nerve conduction studies have limitations and require particular consideration in children. The indications and the main results are considered from the study of 1624 EMGs in 1385 children under 15 years old seen over a period of 3 years. Classification of cases was based on clinical

[A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy].

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We report a 20-year-old man with temporal lobe epilepsy (TLE) accompanied by hereditary motor and sensory neuropathy (HMSN). He had experienced complex partial seizures (CPS), which started with a nausea-like feeling, followed by loss of consciousness and automatism, since he was 6 years old. The

Trembler mouse carries a point mutation in a myelin gene.

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The autosomal dominant trembler mutation (Tr), maps to mouse chromosome 11 (ref. 2) and manifests as a Schwann-cell defect characterized by severe hypomyelination and continuing Schwann-cell proliferation throughout life. Affected animals move clumsily and develop tremor and transient seizures at a

Mechanisms of toxicity, clinical features, and management of acute chlorophenoxy herbicide poisoning: a review.

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BACKGROUND Chlorophenoxy herbicides are used widely for the control of broad-leaved weeds. They exhibit a variety of mechanisms of toxicity including dose-dependent cell membrane damage, uncoupling of oxidative phosphorylation, and disruption of acetylcoenzyme A metabolism. Between January 1962 and

The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.

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Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa Rican family with axonal neuropathy and autosomal recessive pattern of inheritance

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