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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Journal of Medical Genetics, 09/25/09
Hynes K et al. – This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family history of EFMR.
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Neonatal seizures
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Propofol infusion syndrome in patients with refractory status epilepticus: An 11-year clinical experience
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