Epilepsy and seizures

Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation
S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, S Hammer, C Schanen, I Terai, M Tamura

Journal of Medical Genetics Feb 2002, 39 (2) 132-136; DOI: 10.1136/jmg.39.2.132
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
Sarah E Heron, Leanne M Dibbens

Journal of Medical Genetics Mar 2013, 50 (3) 133-139; DOI: 10.1136/jmedgenet-2012-101406
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome
J G Dauwerse, K Bouman, A J van Essen, A H van der Hout, G Kolsters, M H Breuning, D J M Peters

Journal of Medical Genetics Feb 2002, 39 (2) 136-141; DOI: 10.1136/jmg.39.2.136
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
Rafiullah Rafiullah, Muhammad Aslamkhan, Nagarajan Paramasivam, Christian Thiel, Ghulam Mustafa, Stefan Wiemann, Matthias Schlesner, Rebecca C Wade, Gudrun A Rappold, Simone Berkel

Journal of Medical Genetics Feb 2016, 53 (2) 138-144; DOI: 10.1136/jmedgenet-2015-103179
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, B M Gabriel, H Journel, M Kretz, J Laurent, M Le Merrer, A Leroy, D Pedespan, P Sarda, N Villeneuve, J Schmitz, E van Schaftingen, G Matthijs, J Jaeken, C Korner, A Munnich, J M Saudubray, V Cormier-Daire

Journal of Medical Genetics Jan 2001, 38 (1) 14-19; DOI: 10.1136/jmg.38.1.14
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
Andres Moreno-De-Luca, Sandra L Helmers, Hui Mao, Thomas G Burns, Amanda M A Melton, Karen R Schmidt, Paul M Fernhoff, David H Ledbetter, Christa L Martin

Journal of Medical Genetics Feb 2011, 48 (2) 141-144; DOI: 10.1136/jmg.2010.082263
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour
S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman

Journal of Medical Genetics Feb 2005, 42 (2) 147-151; DOI: 10.1136/jmg.2004.022673
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?
R Redon, M Rio, S G Gregory, R A Cooper, H Fiegler, D Sanlaville, R Banerjee, C Scott, P Carr, C Langford, V Cormier-Daire, A Munnich, N P Carter, L Colleaux

Journal of Medical Genetics Feb 2005, 42 (2) 166-171; DOI: 10.1136/jmg.2004.023861
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
H Rosas-Vargas, N Bahi-Buisson, C Philippe, J Nectoux, B Girard, M A N’Guyen Morel, C Gitiaux, L Lazaro, S Odent, P Jonveaux, J Chelly, T Bienvenu

Journal of Medical Genetics Mar 2008, 45 (3) 172-178; DOI: 10.1136/jmg.2007.053504
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
C C Garcia, H J Blair, M Seager, A Coulthard, S Tennant, M Buddles, A Curtis, J A Goodship

Journal of Medical Genetics Mar 2004, 41 (3) 183-186; DOI: 10.1136/jmg.2003.013680

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