Targeted treatment of migrating partial seizures of infancy with quinidine.
作者： David Bearden , Alanna Strong , Jessica Ehnot , Marissa DiGiovine , Dennis Dlugos
DOI: 10.1002/ANA.24229
关键词:
摘要: Migrating partial seizures of infancy is an early onset epileptic encephalopathy syndrome that typically resistant to treatment. The most common cause a gain function mutation in the potassium channel KCNT1. antiarrhythmic drug quinidine antagonist KCNT1 and hence may be candidate for treatment this condition. We report case child with migrating secondary activating treated quinidine. Treatment was correlated marked reduction seizure frequency improved psychomotor development.
readcube.com 参考文章(17)
Maile R. Brown, Jack Kronengold, Valeswara-Rao Gazula, Charalampos G. Spilianakis, Richard A. Flavell, Christian A. A. Von Hehn, Arin Bhattacharjee, Leonard K. Kaczmarek, Amino-termini isoforms of the Slack K+ channel, regulated by alternative promoters, differentially modulate rhythmic firing and adaptation. The Journal of Physiology. ,vol. 586, pp. 5161- 5179 ,(2008) , 10.1113/JPHYSIOL.2008.160861
Mathieu Milh, Antonio Falace, Nathalie Villeneuve, Nicola Vanni, Pierre Cacciagli, Stefania Assereto, Rima Nabbout, Fabio Benfenati, Federico Zara, Brigitte Chabrol, Laurent Villard, Anna Fassio, Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy Human Mutation. ,vol. 34, pp. 869- 872 ,(2013) , 10.1002/HUMU.22318
Eric Marsh, Susan E. Melamed, Todd Barron, Robert R. Clancy, Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome. Epilepsia. ,vol. 46, pp. 568- 572 ,(2005) , 10.1111/J.0013-9580.2005.34104.X
G. Coppola, P. Plouin, C. Chiron, O. Robain, O. Dulac, Migrating Partial Seizures in Infancy: A Malignant Disorder with Developmental Arrest Epilepsia. ,vol. 36, pp. 1017- 1024 ,(1995) , 10.1111/J.1528-1157.1995.TB00961.X
Emily R. Freilich, Julie M. Jones, William D. Gaillard, Joan A. Conry, Tammy N. Tsuchida, Christine Reyes, Sulayman Dib-Hajj, Stephen G. Waxman, Miriam H. Meisler, Phillip L. Pearl, Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy JAMA Neurology. ,vol. 68, pp. 665- 671 ,(2011) , 10.1001/ARCHNEUROL.2011.98
Giulia Barcia, Matthew R Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick Nitschke, Anna Kaminska, Nathalie Boddaert, Jean-Laurent Casanova, Isabelle Desguerre, Arnold Munnich, Olivier Dulac, Leonard K Kaczmarek, Laurence Colleaux, Rima Nabbout, None, De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nature Genetics. ,vol. 44, pp. 1255- 1259 ,(2012) , 10.1038/NG.2441
Radhika Dhamija, Elaine Wirrell, Germano Falcao, Salman Kirmani, Lily C. Wong-Kisiel, Novel de novo SCN2A Mutation in a Child With Migrating Focal Seizures of Infancy Pediatric Neurology. ,vol. 49, pp. 486- 488 ,(2013) , 10.1016/J.PEDIATRNEUROL.2013.07.004
B YANG, V GRIBKOFF, J PAN, V DAMAGNEZ, S DWORETZKY, C BOISSARD, A BHATTACHARJEE, Y YAN, F SIGWORTH, L KACZMAREK, Pharmacological activation and inhibition of Slack (Slo2.2) channels. Neuropharmacology. ,vol. 51, pp. 896- 906 ,(2006) , 10.1016/J.NEUROPHARM.2006.06.003
Maile R Brown, Jack Kronengold, Valeswara-Rao Gazula, Yi Chen, John G Strumbos, Fred J Sigworth, Dhasakumar Navaratnam, Leonard K Kaczmarek, Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack Nature Neuroscience. ,vol. 13, pp. 819- 821 ,(2010) , 10.1038/NN.2563
Sherry A Luedtke, Robert J Kuhn, Francis M McCaffrey, Pharmacologic Management of Supraventricular Tachycardias in Children. Part 2: Atrial Flutter, Atrial Fibrillation, and Junctional and Atrial Ectopic Tachycardia Annals of Pharmacotherapy. ,vol. 31, pp. 1347- 1359 ,(1997) , 10.1177/106002809703101113