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anencephaly/seizures

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Long-term prognosis of epilepsy in children--a follow-up report beyond 18 years of age.

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Inicieu sessió / registreu-vos
The long-term prognosis of 185 children with epilepsy, who continued to attend the Clinic for Epileptic Children, the Department of Pediatrics, the University of Tokyo, beyond the age of 18 years, was reported. The length of follow-up varied from three to 20 years, but most of them were followed

The risk of spina bifida aperta after first-trimester exposure to valproate in a prenatal cohort.

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Inicieu sessió / registreu-vos
Use of antiepileptic drugs (AEDs) during pregnancy is associated with an increased risk of congenital malformations. Spina bifida aperta has been linked specifically to valproic acid (VPA) (estimated risk, 1 to 2%). The actual risk, the exclusive association of VPA with spina bifida and not
Valproic acid, a drug commonly used to treat seizures and other psychiatric disorders, causes neural tube defects (NTDs) in exposed fetuses at a rate 20 times higher than in the general population. Failure of the neural tube to close during development results in exencephaly or anencephaly, as well

Microphthalmia with linear skin defects: a case report and review.

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Inicieu sessió / registreu-vos
Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature,

A turner syndrome patient carrying a mosaic distal x chromosome marker.

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Inicieu sessió / registreu-vos
A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small
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