WILLIAM CRAIGEN to Epilepsy
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Epilepsy.
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0.211
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PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. Am J Med Genet A. 2023 06; 191(6):1619-1625.
Score: 0.116
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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010 Jul; 133(Pt 7):2148-59.
Score: 0.048
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D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol. 1999 Jan; 45(1):111-9.
Score: 0.022
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.014
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.012