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• W4308451189 abstract "The International League Against Epilepsy officially revised its classification in 2017, which amended “epileptic encephalopathy” to “developmental and epileptic encephalopathy”. With the development of genetic testing technology, an increasing number of genes that cause developmental and epileptic encephalopathies are being identified. Among these, solute transporter dysfunction is part of the etiology of developmental and epileptic encephalopathies. Solute carrier transporters play an essential physiological function in the human body, and their dysfunction is associated with various human diseases. Therefore, in-depth studies of developmental and epileptic encephalopathies caused by solute carrier transporter dysfunction can help develop new therapeutic modalities to facilitate the treatment of refractory epilepsy and improve patient prognosis. In this article, the concept of transporter protein disorders is first proposed, and nine developmental and epileptic encephalopathies caused by solute carrier transporter dysfunction are described in detail in terms of pathogenesis, clinical manifestations, ancillary tests, and precise treatment to provide ideas for the precise treatment of epilepsy." @default.
• W4308451189 created "2022-11-12" @default.
• W4308451189 creator A5028296024 @default.
• W4308451189 creator A5036650168 @default.
• W4308451189 creator A5065635312 @default.
• W4308451189 creator A5071812261 @default.
• W4308451189 creator A5089358409 @default.
• W4308451189 creator A5089485133 @default.
• W4308451189 date "2022-11-07" @default.
• W4308451189 modified "2023-10-17" @default.
• W4308451189 title "Solute carrier transporter disease and developmental and epileptic encephalopathy" @default.
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