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Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

Article Abstract:

Contacin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels at the nodes of Ranvier and it was observed that a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures began in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation developed in all children and resective surgery did not prevent the recurrence of seizures.

Author: Strauss, Kevin A., Puffenberger, Eric G., Huentelan, Matthew J., Gottllieb, Steven, Dobrin, Seth E., Parod, Jennifer M., Stephan, Dietrich A.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2006
Research and Development in the Physical, Engineering, and Life Sciences, Research and Testing Services, Epilepsy & Muscle Disease R&D, Genetic aspects, Epilepsy, Epilepsy research

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Advances in malignant mesothelioma

Article Abstract:

Malignant mesothelioma is an aggressive tumor or serosal surfaces that is increasing worldwide probably as a result of widespread exposure to asbestos, a factor with which it is associated. The key advances in the understanding, diagnosis, and management of malignant mesothelioma are presented.

Author: Robinson, Bruce W.S., Lake, Richard A.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2005
Care and treatment, Diagnosis, Risk factors, Melanoma

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Subjects list: United States
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