Abstract
Two novel slow-channel congenital myasthenic syndromes (SCCMS) with mutations in the AChR e subunit are reported from the John Radcliffe Hospital, Oxford, UK.
Highlights
The interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development (MCD) was studied at the University of Campinas, SP, Brazil
The more frequent and severe epilepsy associated with focal cortical dysplasia is less frequently related to genetic and prenatal factors, whereas the less frequent and milder epilepsy common to the polymicrogyria group has a stronger association with genetic and prenatal events
Two novel slow-channel congenital myasthenic syndromes (SCCMS) with mutations in the acetylcholine receptor (AChR) e subunit are reported from the John Radcliffe Hospital, Oxford, UK
Summary
The interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development (MCD) was studied at the University of Campinas, SP, Brazil. Prenatal events had occurred in 28 (37%) of the total series and only 2 of controls (5%); they were significantly more frequent in the patients with heterotopias and polymicrogyria (P
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