| Title : PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy - Hildebrand_2015_Ann.Clin.Transl.Neurol_2_821 |
| Author(s) : Hildebrand MS , Tankard R , Gazina EV , Damiano JA , Lawrence KM , Dahl HH , Regan BM , Shearer AE , Smith RJ , Marini C , Guerrini R , Labate A , Gambardella A , Tinuper P , Lichetta L , Baldassari S , Bisulli F , Pippucci T , Scheffer IE , Reid CA , Petrou S , Bahlo M , Berkovic SF |
| Ref : Ann Clin Transl Neurol , 2 :821 , 2015 |
| Abstract : |
| PubMedSearch : Hildebrand_2015_Ann.Clin.Transl.Neurol_2_821 |
| PubMedID: 26339676 |
| Title : A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy - Muhle_2010_Epilepsia_51_2453 |
| Author(s) : Muhle H , Steinich I , von Spiczak S , Franke A , Weber Y , Lerche H , Wittig M , Heidemann S , Suls A , De Jonghe P , Marini C , Guerrini R , Scheffer IE , Berkovic SF , Stephani U , Siebert R , Sander T , Helbig I , Tonnies H |
| Ref : Epilepsia , 51 :2453 , 2010 |
| Abstract : |
| PubMedSearch : Muhle_2010_Epilepsia_51_2453 |
| PubMedID: 21204805 |
| Title : Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy - Fedi_2008_Neurology_71_795 |
| Author(s) : Fedi M , Berkovic SF , Scheffer IE , O'Keefe G , Marini C , Mulligan R , Gong S , Tochon-Danguy H , Reutens DC |
| Ref : Neurology , 71 :795 , 2008 |
| Abstract : |
| PubMedSearch : Fedi_2008_Neurology_71_795 |
| PubMedID: 18685138 |
| Title : Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore - Hoda_2008_Mol.Pharmacol_74_379 |
| Author(s) : Hoda JC , Gu W , Friedli M , Phillips HA , Bertrand S , Antonarakis SE , Goudie D , Roberts R , Scheffer IE , Marini C , Patel J , Berkovic SF , Mulley JC , Steinlein OK , Bertrand D |
| Ref : Molecular Pharmacology , 74 :379 , 2008 |
| Abstract : |
| PubMedSearch : Hoda_2008_Mol.Pharmacol_74_379 |
| PubMedID: 18456869 |
| Title : Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation - Teper_2007_J.Neurosci_27_10128 |
| Author(s) : Teper Y , Whyte D , Cahir E , Lester HA , Grady SR , Marks MJ , Cohen BN , Fonck C , McClure-Begley TD , McIntosh JM , Labarca C , Lawrence A , Chen F , Gantois I , Davies PJ , Petrou S , Murphy M , Waddington J , Horne MK , Berkovic SF , Drago J |
| Ref : Journal of Neuroscience , 27 :10128 , 2007 |
| Abstract : |
| PubMedSearch : Teper_2007_J.Neurosci_27_10128 |
| PubMedID: 17881519 |
| Title : Role of spontaneous mutations of neuronal nicotinic acetylcholine receptors in ADNFLE. - |
| Author(s) : Bertrand D , Favre I , Phillips H , Bertrand S , Berkovic SF , Mulley J |
| Ref : Cholinergic Mechanisms, CRC Press :481 , 2004 |
| PubMedID: |