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familial focal epilepsy with variable origin相关文献:
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE.
Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31.
PMID:23542697
Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q.
Callenbach PM, van den Maagdenberg AM, Hottenga JJ, van den Boogerd EH, de Coo RF, Lindhout D, Frants RR, Sandkuijl LA, Brouwer OF.
Epilepsia. 2003 Oct;44(10):1298-305. doi: 10.1046/j.1528-1157.2003.62302.x.
PMID:14510823
Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12.
Morales-Corraliza J, Gómez-Garre P, Sanz R, Díaz-Otero F, Gutiérrez-Delicado E, Serratosa JM.
Epilepsia. 2010 Sep;51(9):1910-4. doi: 10.1111/j.1528-1167.2010.02680.x.
PMID:20659149
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M.
Epilepsia. 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x.
PMID:15329069
Symptomatology in children with focal sharp waves of genetic origin.
Doose H.
Eur J Pediatr. 1989 Dec;149(3):210-5. doi: 10.1007/BF01958285.
PMID:2482185
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E.
Brain. 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247.
PMID:10825362
The concept of hereditary impairment of brain maturation.
Doose H, Neubauer BA, Petersen B.
Epileptic Disord. 2000;2 Suppl 1:S45-9.
PMID:11231224
Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.
Bergren SK, Chen S, Galecki A, Kearney JA.
Mamm Genome. 2005 Sep;16(9):683-90. doi: 10.1007/s00335-005-0049-4. Epub 2005 Oct 19.
PMID:16245025
Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation.
Carreño M, Garcia-Alvarez D, Maestro I, Fernández S, Donaire A, Boget T, Rumià J, Pintor L, Setoain X.
Epileptic Disord. 2010 Jun;12(2):155-8. doi: 10.1684/epd.2010.0307. Epub 2010 May 18.
PMID:20478764
Multifactorial etiology of interictal behavior in frontal and temporal lobe epilepsy.
Helmstaedter C, Witt JA.
Epilepsia. 2012 Oct;53(10):1765-73. doi: 10.1111/j.1528-1167.2012.03602.x. Epub 2012 Aug 6.
PMID:22881602
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