Associated Papers
[A patient with an early diagnosis of PCDH19-related epilepsy].
Hoshina M et al.
No to Hattatsu = Brain and Development, 2015
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.
Appenzeller S et al.
Developmental Medicine and Child Neurology, 2012
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C et al.
Human Mutation, 2012
PCDH19 mutation in Japanese females with epilepsy.
Higurashi N et al.
Epilepsy Research, 2012
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Hynes K et al.
Journal of Medical Genetics, 2010
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