Search Results

Parental SCN1A mutation mosaicism in familial Dravet syndrome

Authors: Selmer, KK; Eriksson, A-S; Brandal, K; Egeland, T; Tallaksen, C; Undlien, DE

Source: Clinical Genetics, Volume 76, Number 4, October 2009 , pp. 398-403(6)

Publisher: Blackwell Publishing

Carbamazepine/lamotrigine/valproate: Aggravation of seizures, and elevation of ALT, in an infant with SCN1A mutation: case report

Source: Reactions, Volume 1, Number 1269, 2009-09-12 , pp. 11-12(2)

Publisher: Adis International

Dravet syndrome: From electroclinical characteristics to molecular biology

Author: Arzimanoglou, Alexis

Source: Epilepsia, Volume 50, Supplement 8, September 2009 , pp. 3-9(7)

Publisher: Blackwell Publishing

Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy

Authors: Sakakibara, Takafumi; Nakagawa, Eiji; Saito, Yoshiaki; Sakuma, Hiroshi; Komaki, Hirofumi; Sugai, Kenji; Sasaki, Masayuki; Kurahashi, Hirokazu; Hirose, Shinichi

Source: Epilepsia, Volume 50, Number 9, September 2009 , pp. 2158-2162(5)

Publisher: Blackwell Publishing

Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population

Authors: Lakhan, Ram; Kumari, Ritu; Misra, Usha K.; Kalita, Jayanti; Pradhan, Sunil; Mittal, Balraj

Source: British Journal of Clinical Pharmacology, Volume 68, Number 2, August 2009 , pp. 214-220(7)

Publisher: Blackwell Publishing

SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Authors: Marini, Carla; Scheffer, Ingrid E.; Nabbout, Rima; Mei, Davide; Cox, Kathy; Dibbens, Leanne M.; McMahon, Jacinta M.; Iona, Xenia; Carpintero, Rochio Sanchez; Elia, Maurizio; Cilio, Maria Roberta; Specchio, Nicola; Giordano, Lucio; Striano, Pasquale; Gennaro, Elena; Cross, J. Helen; Kivity, Sara; Neufeld, Miriam Y.; Afawi, Zaid; Andermann, Eva; Keene, Daniel; Dulac, Olivier; Zara, Federico; Berkovic, Samuel F.; Guerrini, Renzo; Mulley, John C.

Source: Epilepsia, Volume 50, Number 7, July 2009 , pp. 1670-1678(9)

Publisher: Blackwell Publishing

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

Source: Clinical Genetics, Volume 75, Number 6, June 2009 , pp. 579-581(3)

Publisher: Blackwell Publishing

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

Authors: Fendri-Kriaa, N.; Kammoun, F.; Rebai, A.; Kolsi, D.; Hadj Salem, I.; Fakhfakh, F.; Triki, C.

Source: European Journal of Neurology, Volume 16, Number 6, June 2009 , pp. 697-704(8)

Publisher: Blackwell Publishing

Clinical spectrum of SCN1A mutations

Authors: Gambardella, Antonio; Marini, Carla

Source: Epilepsia, Volume 50, Supplement 5, May 2009 , pp. 20-23(4)

Publisher: Blackwell Publishing

A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+

Authors: Hindocha, Neeti; Nabbout, Rima; Elmslie, Frances; Makoff, Andrew; Al-Chalabi, Ammar; Nashef, Lina

Source: Epilepsia, Volume 50, Number 4, April 2009 , pp. 937-942(6)

Publisher: Blackwell Publishing

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

Authors: Sijben, Angelique E. J.; Sithinamsuwan, Pasiri; Radhakrishnan, Ashalata; Badawy, Radwa A. B.; Dibbens, Leanne; Mazarib, Aziz; Lev, Dorit; Lerman-Sagie, Tally; Straussberg, Rachel; Berkovic, Samuel F.; Scheffer, Ingrid E.

Source: Epilepsia, Volume 50, Number 4, April 2009 , pp. 953-956(4)

Publisher: Blackwell Publishing

First mutation in the voltage-gated Na_V1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy

Authors: Castro, M-J; Stam, AH; Lemos, C; de Vries, B; Vanmolkot, KRJ; Barros, J; Terwindt, GM; Frants, RR; Sequeiros, J; Ferrari, MD; Pereira-Monteiro, JM; van den Maagdenberg, AMJM

Source: Cephalalgia, Volume 29, Number 3, March 2009 , pp. 308-313(6)

Publisher: Blackwell Publishing

Genetic Calcium Signaling Abnormalities in the Central Nervous System: Seizures, Migraine, and Autism

Author: Gargus, J. Jay

Source: Annals of the New York Academy of Sciences, Volume 1151, Number 1, January 2009 , pp. 133-156(24)

Publisher: Blackwell Publishing

The clinical impact of pharmacogenetics on the treatment of epilepsy

Authors: Löscher, Wolfgang; Klotz, Ulrich; Zimprich, Fritz; Schmidt, Dieter

Source: Epilepsia, Volume 50, Number 1, January 2009 , pp. 1-23(23)

Publisher: Blackwell Publishing

Plenary III: Dravet Syndrome

Source: Epilepsia, Volume 49, Supplement 7, October 2008 , pp. 498-498(1)

Publisher: Blackwell Publishing

Genetic influences on ketogenic diet efficacy

Authors: Dutton, Stacey B. B.; Escayg, Andrew

Source: Epilepsia, Volume 49, Supplement 8, November 2008 , pp. 67-69(3)

Publisher: Blackwell Publishing

SCN1A variant in a Scandinavian GEFS+ family: a wolf in sheep's clothing?

Author: Holland, Katherine D.

Source: Acta Neurologica Scandinavica, Volume 118, Number 5, November 2008 , pp. 344-345(2)

Publisher: Blackwell Publishing

Migraine and epilepsy: genetically linked?

Authors: Haan, Joost; van den Maagdenberg, Arn MJM; Brouwer, Oebele F; Ferrari, Michel D

Source: Expert Review of Neurotherapeutics, Volume 8, Number 9, September 2008 , pp. 1307-1311(5)

Publisher: Expert Reviews

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

Authors: Wang, Ji-wen; Kurahashi, Hirokazu; Ishii, Atsushi; Kojima, Toshio; Ohfu, Masaharu; Inoue, Takahito; Ogawa, Atsushi; Yasumoto, Sawa; Oguni, Hirokazu; Kure, Shigeo; Fujii, Tatsuya; Ito, Masatoshi; Okuno, Takehiko; Shirasaka, Yukiyoshi; Natsume, Jun; Hasegawa, Aki; Konagaya, Akihiko; Kaneko, Sunao; Hirose, Shinichi

Source: Epilepsia, Volume 49, Number 9, September 2008 , pp. 1528-1534(7)

Publisher: Blackwell Publishing

There appears to be an association between an SCN1A polymorphism and resistance to carbamazepine in patients with epilepsy

Source: Inpharma, Volume 1, Number 1654, 2008-09-06 , pp. 14-14(1)

Publisher: Adis International