SLC6A1 patient & organization perspective: founding of SLC6A1 connect, research, and ongoing efforts.

Autor: Tiller J; SLC6A1 Connect Organization, Lynchburg, VA, USA., DeLeeuw MB; Department of Biomedical Sciences, Meharry Medical College, Nashville, TN, USA.; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Brain Institute, Nashville, TN, USA., Kang JQ; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Brain Institute, Nashville, TN, USA., Freed A; SLC6A1 Connect, 1939 Temperence Hill Drive, Frisco, TX 75034, USA.

Publikováno v: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 Sep 28; Vol. 5, pp. 26330040241283734. Date of Electronic Publication: 2024 Sep 28 (Print Publication: 2024).

4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2 ^+/Q390X mice associated with Dravet syndrome.

Autor: Shen W; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Flamm C; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Delahanty AJ; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Casteel E; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Biven M; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., DeLeeuw MB; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Department of Biochemistry, Cancer Biology, Neuroscience and Pharmacology, Meharry Medical College, Nashville, Tennessee, USA., Poliquin S; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Nwosu G; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Randhave K; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Kang JQ; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Department of Biochemistry, Cancer Biology, Neuroscience and Pharmacology, Meharry Medical College, Nashville, Tennessee, USA.; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Publikováno v: Epilepsia [Epilepsia] 2024 Jan; Vol. 65 (1), pp. 204-217. Date of Electronic Publication: 2023 Nov 29.