Publications by authors named "Yajing Gan"

Temporal lobe epilepsy (TLE) stands as the predominant adult focal epilepsy syndrome, characterized by dysfunctional intrinsic brain dynamics. However, the precise mechanisms underlying seizures in these patients remain elusive. Our study encompassed 116 TLE patients compared with 51 healthy controls.

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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.

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Article Synopsis
  • * Abnormalities in GABA metabolism, such as issues with its synthesis, transport, and receptor encoding genes (like GABRA1-5 and GABRB1-3), can lead to various epilepsy syndromes by reducing GABA receptor effectiveness.
  • * Mutations in GABA metabolism genes (like ABAT and ALDH5A1) can cause cognitive impairment and epilepsy, highlighting the link between genetic variations and developmental disorders for better diagnostic and treatment strategies.
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