Detalhe da pesquisa
1.
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.
Epilepsy Behav
; 51: 53-6, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26262932
2.
Epilepsy in ring 14 chromosome syndrome.
Epilepsy Behav
; 25(4): 585-92, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159383
3.
Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome.
Epilepsy Behav
; 19(3): 383-93, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20797915
4.
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Hum Mutat
; 30(3): E530-40, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19177532
5.
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Biochem Biophys Res Commun
; 379(4): 892-7, 2009 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-19135028
6.
Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.
Pediatr Neurol
; 50(5): 530-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24731847
7.
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Orphanet J Rare Dis
; 8: 19, 2013 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23374165
8.
PRRT2 is mutated in familial and non-familial benign infantile seizures.
Eur J Paediatr Neurol
; 17(1): 77-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22902423
9.
Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features.
J Neuroimaging
; 21(2): 188-93, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19555404
10.
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution.
Epilepsy Res
; 97(1-2): 133-41, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21873030
11.
Epileptic encephalopathy in children possibly related to immune-mediated pathogenesis.
Brain Dev
; 32(1): 51-6, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19850427
12.
Refractory focal epilepsy following acute encephalopathy with inflammation-mediated status epilepticus.
Seizure
; 20(10): 824-5, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21803610