Epilepsy and seizures

Citations 11-20 of 133 total displayed.

Review
Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes

J Rochette, P Roll, P Szepetowski
J. Med. Genet. 2008; 45: 773-779. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

F E Abidi, L Holloway, C A Moore, D D Weaver, R J Simensen, R E Stevenson, R C Rogers, C E Schwartz
J. Med. Genet. 2008 45: 787 -793; published online before print as 10.1136/jmg.2008.058990 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene

N Ishikawa, S Okada, M Miki, K Shirao, H Kihara, M Tsumura, K Nakamura, H Kawaguchi, M Ohtsubo, S Yasunaga, K Matsubara, M Sako, J Hara, M Shiohara, S Kojima, T Sato, Y Takihara, M Kobayashi
J. Med. Genet. 2008 45: 802 -807; published online before print as 10.1136/jmg.2008.058297 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, II, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, B B A de Vries
J. Med. Genet. 2008 45: 710 -720; published online before print as 10.1136/jmg.2008.058701 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

C Zweier, H Sticht, E K Bijlsma, J Clayton-Smith, S E Boonen, A Fryer, M T Greally, L Hoffmann, N S den Hollander, M Jongmans, S G Kant, M D King, S A Lynch, S McKee, A T Midro, S-M Park, V Ricotti, E Tarantino, M Wessels, M Peippo, A Rauch
J. Med. Genet. 2008 45: 738 -744; published online before print as 10.1136/jmg.2008.060129 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome

G de Alencastro, D E McCloskey, S E Kliemann, C M C Maranduba, A E Pegg, X Wang, D R Bertola, C E Schwartz, M R Passos-Bueno, A L Sertié
J. Med. Genet. 2008 45: 539 -543; published online before print as 10.1136/jmg.2007.056713 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations

C M Armour, J E Allanson
J. Med. Genet. 2008 45: 249 -254; published online before print as 10.1136/jmg.2007.054460 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2008 45: 172 -178; published online before print as 10.1136/jmg.2007.053504 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

N M C Maas, G Van Buggenhout, F Hannes, B Thienpont, D Sanlaville, K Kok, A Midro, J Andrieux, B-M Anderlid, J Schoumans, R Hordijk, K Devriendt, J-P Fryns, J R Vermeesch
J. Med. Genet. 2008 45: 71 -80; published online before print as 10.1136/jmg.2007.052910 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

S E Heron, K Cox, B E Grinton, S M Zuberi, S Kivity, Z Afawi, R Straussberg, S F Berkovic, I E Scheffer, J C Mulley
J. Med. Genet. 2007 44: 791 -796; published online before print as 10.1136/jmg.2007.051938 [Abstract] [Full text] [PDF] [Request Permissions]