Epilepsy and seizures

A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase
B-E Kim, K Smith, M J Petris

Journal of Medical Genetics Apr 2003, 40 (4) 290-295; DOI: 10.1136/jmg.40.4.290
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
Miora Feinstein, Hagit Flusser, Tally Lerman-Sagie, Bruria Ben-Zeev, Dorit Lev, Orly Agamy, Idan Cohen, Rotem Kadir, Sara Sivan, Esther Leshinsky-Silver, Barak Markus, Ohad S Birk

Journal of Medical Genetics May 2014, 51 (5) 303-308; DOI: 10.1136/jmedgenet-2013-101823
Mowat-Wilson syndrome
D R Mowat, M J Wilson, M Goossens

Journal of Medical Genetics May 2003, 40 (5) 305-310; DOI: 10.1136/jmg.40.5.305
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst, Lucy Jenkins, Manju A Kurian, Richard H Scott

Journal of Medical Genetics May 2016, 53 (5) 310-317; DOI: 10.1136/jmedgenet-2015-103263
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
S A Yatsenko, S W Cheung, D A Scott, M J M Nowaczyk, M Tarnopolsky, S Naidu, G Bibat, A Patel, J G Leroy, F Scaglia, P Stankiewicz, J R Lupski

Journal of Medical Genetics Apr 2005, 42 (4) 328-335; DOI: 10.1136/jmg.2004.028258
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Maxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, Sulayman D Dib-Hajj, Stephen G Waxman, Marjolijn CJ Jongmans, Tjitske Kleefstra, Bart P van de Warrenburg, Peter Praamstra, Joost Nicolai, Helger G Yntema, René JM Bindels, Miriam H Meisler, Erik-Jan Kamsteeg

Journal of Medical Genetics May 2015, 52 (5) 330-337; DOI: 10.1136/jmedgenet-2014-102813
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley, Gary Clark, Jennifer Lee, Monica Proud, Amber Stocco, Diana L Rodriguez, Beth A Kozel, Steven Sparagana, Elizabeth R Roeder, Susan G McGrew, Thaddeus W Kurczynski, Leslie J Allison, Stephen Amato, Sarah Savage, Ankita Patel, Pawel Stankiewicz, Arthur L Beaudet, Sau Wai Cheung, James R Lupski

Journal of Medical Genetics May 2010, 47 (5) 332-341; DOI: 10.1136/jmg.2009.073015
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation
T Bienvenu, K Poirier, H Van Esch, B Hamel, C Moraine, J P Fryns, H H Ropers, C Beldjord, H G Yntema, J Chelly

Journal of Medical Genetics May 2003, 40 (5) 357-359; DOI: 10.1136/jmg.40.5.357
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11
Petter Strømme, Kjetil Sundet, Cato Mørk, Jean-Jacques Cassiman, Jean-Pierre Fryns, Stephan Claes

Journal of Medical Genetics May 1999, 36 (5) 374-378; DOI: 10.1136/jmg.36.5.374
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
H Gill, J P Cheadle, J Maynard, N Fleming, S Whatley, T Cranston, E M Thompson, H Leonard, M Davis, J Christodoulou, O Skjeldal, F Hanefeld, A Kerr, A Tandy, D Ravine, A Clarke

Journal of Medical Genetics May 2003, 40 (5) 380-384; DOI: 10.1136/jmg.40.5.380

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