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10.1016/j.ajhg.2015.02.016 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2015.02.016 C4570550!4570550!25865495     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2015 ; 96 (5): 808-15 Nephropedia Template TP {{tp|p=25865495|t=2015. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures |pdf=|usr=}}{{25865495}} gab.com Text Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25865495 #FOAvip GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many of the electrophysiological properties of Gat1-deficient mice, including spontaneous spike-wave discharges. Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ?4% of unsolved MAE cases. Twit Text FOAVip Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25865495 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25865495 #FOAvip English Wikipedia <ref>{{Cite pmid|25865495}}</ref> Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures #MMPMID25865495 Carvill G; McMahon J; Schneider A; Zemel M; Myers C; Saykally J; Nguyen J; Robbiano A; Zara F; Specchio N; Mecarelli O; Smith R; Leventer R; Møller R; Nikanorova M; Dimova P; Jordanova A; Petrou S; Helbig I; Striano P; Weckhuysen S; Berkovic S; Scheffer I; Mefford H Am J Hum Genet 2015[May]; 96 (5): 808-15 PMID25865495show ga GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many of the electrophysiological properties of Gat1-deficient mice, including spontaneous spike-wave discharges. Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ?4% of unsolved MAE cases. äMutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic(epmc).pdf DeepDyve Pubget Overpricing