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Developmental Medicine and Child Neurology|April 28, 2015
Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factorNatasha E Schoeler, Judith Helen Cross, Suzanne Drury, et al.
Journal of Medical Genetics|July 11, 2009
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal originSarah E Heron, Ingrid E Scheffer, Xenia Iona, et al.
Neurology|August 15, 2002
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARXIngrid E Scheffer, R H Wallace, F L Phillips, et al.
American Journal of Human Genetics|August 21, 2024
Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of biasColin A Ellis, Karen L Oliver, Rebekah V Harris, et al.
Epilepsy Research|September 16, 2011
A novel GEFS+ locus on 12p13.33 in a large Roma familyBharti Morar, Sashka Zhelyazkova, Dimitar N Azmanov, et al.
Brain Communications|January 8, 2024
Exploring individual fixel-based white matter abnormalities in epilepsyRemika Mito, Mangor Pedersen, Heath Pardoe, et al.
Epilepsia|February 4, 2014
Glucose metabolism transporters and epilepsy: only GLUT1 has an established roleMichael S Hildebrand, John A Damiano, Saul A Mullen, et al.
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