Mancini, G.M.S.

patient mutation syndrome protein genet brain deletion analysis phenotype family disease col 4a disorder study cause figure table genetic creatine defect transporter control ficiency syndrome department feature retardation individual glut 1 sequence netherland university region erasmu ficiency lissencephaly transport abnormality sialic identi seizure month heterotopia result variant development group periventricular glucose lysosomal chromosome identi fied rotterdam missense epilepsy number slc 2a gene subject ahi 1 mutations change diagnosis matter erasmus mc novel polymicrogyria erasmus university rotterdam parent pattern fication american journal expression cortex neurology joubert syndrome ier 3ip 2 2 report col 4a mutations domain treatment downloaded