Epilepsy and seizures

Citations 1-10 of 133 total displayed.

Review
Encephalocraniocutaneous lipomatosis

U Moog
J. Med. Genet. 2009 46: 721 -729; published online before print as 10.1136/jmg.2009.066068 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation reports
The unfolding clinical spectrum of POLG mutations

M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets
J. Med. Genet. 2009 46: 776 -785; published online before print as 10.1136/jmg.2009.067686 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

K Kanai, S Yoshida, S Hirose, H Oguni, S Kuwabara, S Sawai, A Hiraga, G Fukuma, H Iwasa, T Kojima, S Kaneko
J. Med. Genet. 2009 46: 671 -679; published online before print as 10.1136/jmg.2008.060897 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Original articles
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B W M van Bon, H C Mefford, B Menten, D A Koolen, A J Sharp, W M Nillesen, J W Innis, T J L de Ravel, C L Mercer, M Fichera, H Stewart, L E Connell, K Õunap, K Lachlan, B Castle, N Van der Aa, C van Ravenswaaij, M A Nobrega, C Serra-Juhé, I Simonic, N de Leeuw, R Pfundt, E M Bongers, C Baker, P Finnemore, S Huang, V K Maloney, J A Crolla, M van Kalmthout, M Elia, G Vandeweyer, J P Fryns, S Janssens, N Foulds, S Reitano, K Smith, S Parkel, B Loeys, C G Woods, A Oostra, F Speleman, A C Pereira, A Kurg, L Willatt, S J L Knight, J R Vermeesch, C Romano, J C Barber, G Mortier, L A Pérez-Jurado, F Kooy, H G Brunner, E E Eichler, T Kleefstra, B B A de Vries
J. Med. Genet. 2009 46: 511 -523; published online before print as 10.1136/jmg.2008.063412 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Letters to JMG
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

T Y Tan, S Aftimos, L Worgan, R Susman, M Wilson, S Ghedia, E P Kirk, D Love, A Ronan, A Darmanian, A Slavotinek, J Hogue, J B Moeschler, J Ozmore, R Widmer, R Savarirayan, G Peters
J. Med. Genet. 2009 46: 480 -489; published online before print as 10.1136/jmg.2008.065391 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

S Ben-Shachar, B Lanpher, J R German, M Qasaymeh, L Potocki, S C Sreenath Nagamani, L M Franco, A Malphrus, G W Bottenfield, J E Spence, S Amato, J A Rousseau, B Moghaddam, C Skinner, S A Skinner, S Bernes, N Armstrong, M Shinawi, P Stankiewicz, A Patel, S-W Cheung, J R Lupski, A L Beaudet, T Sahoo
J. Med. Genet. 2009 46: 382 -388; published online before print as 10.1136/jmg.2008.064378 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

F D Hannes, A J Sharp, H C Mefford, T de Ravel, C A Ruivenkamp, M H Breuning, J-P Fryns, K Devriendt, G Van Buggenhout, A Vogels, H Stewart, R C Hennekam, G M Cooper, R Regan, S J L Knight, E E Eichler, J R Vermeesch
J. Med. Genet. 2009 46: 223 -232; published online before print as 10.1136/jmg.2007.055202 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Original articles
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

D T Miller, Y Shen, L A Weiss, J Korn, I Anselm, C Bridgemohan, G F Cox, H Dickinson, J Gentile, D J Harris, V Hegde, R Hundley, O Khwaja, S Kothare, C Luedke, R Nasir, A Poduri, K Prasad, P Raffalli, A Reinhard, S E Smith, M M Sobeih, J S Soul, J Stoler, M Takeoka, W-H Tan, J Thakuria, R Wolff, R Yusupov, J F Gusella, M J Daly, B-L Wu
J. Med. Genet. 2009 46: 242 -248; published online before print as 10.1136/jmg.2008.059907 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, W Carpentier, B Keren, B Abert, A Gautier, S Baulac, A Arzimanoglou, C Cazeneuve, R Nabbout, E LeGuern
J. Med. Genet. 2009 46: 183 -191; published online before print as 10.1136/jmg.2008.062323 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Original articles
Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number

A Hogart, K N Leung, N J Wang, D J Wu, J Driscoll, R O Vallero, N C Schanen, J M LaSalle
J. Med. Genet. 2009 46: 86 -93; published online before print as 10.1136/jmg.2008.061580 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]