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Bartnik M, Chun‐Hui Tsai A, Xia Z, Cheung SW, Stankiewicz P. Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures.
Mutations in genes encoding voltage‐gated sodium channels are significant factors in the etiology of neurological diseases and psychiatric disorders, including various types of...
Succinic semialdehyde dehydrogenase (SSADH) deficiency and d-2-hydroxyglutaric aciduria (d-2-HGA) are rare inborn errors of metabolism primarily revealed by urinary organic acid screening. Three patients with proven SSADH deficiency excreted, in addition to GHB considerable amounts of d-2-HG. We examined whether these patients suffered from two inborn errors of metabolism by measuring d-2-HG concentrations...
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