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.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2006
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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.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2005
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