Detalhe da pesquisa
1.
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain
; 136(Pt 10): 3140-50, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24014518
2.
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.
Epilepsia
; 54(8): e112-6, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23899126
3.
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Epilepsia
; 54(3): 425-36, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23360469
4.
PRRT2 mutations are the major cause of benign familial infantile seizures.
Hum Mutat
; 33(10): 1439-43, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22623405
5.
A very fast and accurate method for calling aberrations in array-CGH data.
Biostatistics
; 11(3): 515-8, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20207682
6.
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy.
Epilepsia
; 52(5): e40-4, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21561445
7.
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Arch Neurol
; 69(3): 322-30, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22083797
8.
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Epilepsia
; 48(6): 1092-6, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17381446
9.
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Epilepsia
; 47(10): 1629-35, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17054684