Epilepsy and seizures

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Mark A Corbett, Tracy Dudding-Byth, Patricia A Crock, Elena Botta, Louise M Christie, Tiziana Nardo, Giuseppina Caligiuri, Lynne Hobson, Jackie Boyle, Albert Mansour, Kathryn L Friend, Jo Crawford, Graeme Jackson, Lucianne Vandeleur, Anna Hackett, Patrick Tarpey, Michael R Stratton, Gillian Turner, Jozef Gécz, Michael Field

Journal of Medical Genetics Apr 2015, 52 (4) 269-274; DOI: 10.1136/jmedgenet-2014-102418
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function
Marjolein H Willemsen, Wei Ba, Willemijn M Wissink-Lindhout, Arjan P M de Brouwer, Stefan A Haas, Melanie Bienek, Hao Hu, Lisenka E L M Vissers, Hans van Bokhoven, Vera Kalscheuer, Nael Nadif Kasri, Tjitske Kleefstra

Journal of Medical Genetics Jul 2014, 51 (7) 487-494; DOI: 10.1136/jmedgenet-2013-102182
Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ruxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, Jonathan Adkins, Diana O'Day, Ian G Phelps, Meral Gunay-Aygun, Antonie D Kline, Krzysztof Szczaluba, Loreto Martorell, Abdulrahman Alswaid, Shatha Alrasheed, Shashidhar Pai, Louise Izatt, Anne Ronan, Melissa A Parisi, Heather Mefford, Ian Glass, Dan Doherty

Journal of Medical Genetics Feb 2012, 49 (2) 126-137; DOI: 10.1136/jmedgenet-2011-100552
Predicting disease genes using protein–protein interactions
M Oti, B Snel, M A Huynen, H G Brunner

Journal of Medical Genetics Aug 2006, 43 (8) 691-698; DOI: 10.1136/jmg.2006.041376
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
E Scala, F Ariani, F Mari, R Caselli, C Pescucci, I Longo, I Meloni, D Giachino, M Bruttini, G Hayek, M Zappella, A Renieri

Journal of Medical Genetics Feb 2005, 42 (2) 103-107; DOI: 10.1136/jmg.2004.026237
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
E M Chan, D E Bulman, A D Paterson, J Turnbull, E Andermann, F Andermann, G A Rouleau, A V Delgado-Escueta, S W Scherer, B A Minassian

Journal of Medical Genetics Sep 2003, 40 (9) 671-675; DOI: 10.1136/jmg.40.9.671
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
E K Bijlsma, C M Aalfs, S Sluijter, M E M Oude Luttikhuis, R C Trembath, J M N Hoovers, R C M Hennekam

Journal of Medical Genetics Aug 1999, 36 (8) 604-609; DOI: 10.1136/jmg.36.8.604

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