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Items: 1 to 20 of 94

1.

Lack of pathogenic mutations in six patients with MMPSI.

De Filippo MR, Rizzo F, Marchese G, Giurato G, Nassa G, Ravo M, Tarallo R, Pironti E, Vecchi M, Crichiutti G, Capizzi G, Verrotti A, Weisz A, Coppola G.

Epilepsy Res. 2014 Feb;108(2):340-4. doi: 10.1016/j.eplepsyres.2013.11.007. Epub 2013 Nov 16.

PMID:
24315024
2.

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T.

Gene. 2013 Dec 1;531(2):467-71. doi: 10.1016/j.gene.2013.08.096. Epub 2013 Sep 10.

PMID:
24029078
3.

De novo SCN1A mutations in migrating partial seizures of infancy.

Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE.

Neurology. 2011 Jul 26;77(4):380-3. doi: 10.1212/WNL.0b013e318227046d. Epub 2011 Jul 13.

4.

Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.

Rizzo F, Ambrosino P, Guacci A, Chetta M, Marchese G, Rocco T, Soldovieri MV, Manocchio L, Mosca I, Casara G, Vecchi M, Taglialatela M, Coppola G, Weisz A.

Mol Cell Neurosci. 2016 Apr;72:54-63. doi: 10.1016/j.mcn.2016.01.004. Epub 2016 Jan 16.

PMID:
26784557
5.

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM.

Epilepsia. 2015 Sep;56(9):e114-20. doi: 10.1111/epi.13071. Epub 2015 Jun 30.

6.

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

Freilich ER, Jones JM, Gaillard WD, Conry JA, Tsuchida TN, Reyes C, Dib-Hajj S, Waxman SG, Meisler MH, Pearl PL.

Arch Neurol. 2011 May;68(5):665-71. doi: 10.1001/archneurol.2011.98.

7.

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A.

Hum Mutat. 2013 Jun;34(6):869-72. doi: 10.1002/humu.22318. Epub 2013 Apr 12.

PMID:
23526554
8.

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT.

Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489.

PMID:
18413471
9.

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

Lim CX, Ricos MG, Dibbens LM, Heron SE.

J Med Genet. 2016 Apr;53(4):217-25. doi: 10.1136/jmedgenet-2015-103508. Epub 2016 Jan 6. Review.

PMID:
26740507
10.

A targeted resequencing gene panel for focal epilepsy.

Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC.

Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30.

11.

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R.

Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21.

12.

SCN1A testing for epilepsy: application in clinical practice.

Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF; Genetics Commission of the International League Against Epilepsy.

Epilepsia. 2013 May;54(5):946-52. doi: 10.1111/epi.12168. Epub 2013 Apr 15.

13.

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK, Fung CW, Chan SY, Wong VC.

PLoS One. 2012;7(7):e41802. doi: 10.1371/journal.pone.0041802. Epub 2012 Jul 25.

14.

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H.

Epilepsia. 2013 Jul;54(7):1262-9. doi: 10.1111/epi.12203. Epub 2013 May 10.

15.

Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy.

Coppola G, Veggiotti P, Del Giudice EM, Bellini G, Longaretti F, Taglialatela M, Pascotto A.

Brain Dev. 2006 Mar;28(2):76-9. Epub 2005 Sep 15.

PMID:
16168594
16.

Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome.

Kim DW, Lim BC, Kim KJ, Chae JH, Lee R, Lee SK.

Epilepsy Res. 2013 Oct;106(3):440-5. doi: 10.1016/j.eplepsyres.2013.06.012. Epub 2013 Aug 1.

PMID:
23916143
17.

Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study.

Cordelli DM, Aldrovandi A, Gentile V, Garone C, Conti S, Aceti A, Gennaro E, Zara F, Franzoni E.

Seizure. 2012 Mar;21(2):141-3. doi: 10.1016/j.seizure.2011.09.013. Epub 2011 Oct 19.

18.

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.

Dhamija R, Wirrell E, Falcao G, Kirmani S, Wong-Kisiel LC.

Pediatr Neurol. 2013 Dec;49(6):486-8. doi: 10.1016/j.pediatrneurol.2013.07.004. Epub 2013 Aug 26.

PMID:
23988467
19.

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.

Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV.

Epilepsia. 2012 Aug;53(8):e146-50. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12.

20.

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.

Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP.

Genes Brain Behav. 2012 Mar;11(2):170-6. doi: 10.1111/j.1601-183X.2011.00756.x. Epub 2011 Dec 14.

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