Detalhe da pesquisa
1.
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain
; 142(10): 2996-3008, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31532509
2.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997391
3.
Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study.
Epilepsia
; 57(6): 956-66, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106864
4.
TCTN3 mutations cause Mohr-Majewski syndrome.
Am J Hum Genet
; 91(2): 372-8, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22883145
5.
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
Pediatr Blood Cancer
; 61(6): 1041-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24482108
6.
Children often present with infantile spasms after herpetic encephalitis.
Epilepsia
; 54(9): 1571-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23815601
7.
Novel human reovirus isolated from children with acute necrotizing encephalopathy.
Emerg Infect Dis
; 17(8): 1436-44, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21801621
8.
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Epilepsia
; 52(10): 1828-34, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21770924
9.
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Front Pediatr
; 9: 621200, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748042
10.
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.
Am J Med Genet A
; 152A(5): 1244-9, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425829
11.
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Eur J Med Genet
; 63(12): 104063, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32947049
12.
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Neurology
; 94(13): e1378-e1385, 2020 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32123049
13.
Topography of syllable change-detection electrophysiological indices in children and adults with reading disabilities.
Neuropsychologia
; 47(3): 761-70, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19126410
14.
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Neurol Genet
; 5(6): e363, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872048
15.
Atypical language impairment in two siblings: relationship with electrical status epilepticus during slow wave sleep.
J Neurol Sci
; 249(2): 166-71, 2006 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16859712
16.
Cognitive functions in children with benign childhood epilepsy with centrotemporal spikes (BECTS).
Epileptic Disord
; 8(1): 11-23, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16567321
17.
Language in benign childhood epilepsy with centro-temporal spikes abbreviated form: rolandic epilepsy and language.
Brain Lang
; 92(3): 300-8, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15721962
18.
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Orphanet J Rare Dis
; 8: 80, 2013 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692823
19.
Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study.
Orphanet J Rare Dis
; 6: 83, 2011 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-22151964
20.
Thalamo-striatal T2-weighted hyperintensities (unidentified bright objects) correlate with cognitive impairments in neurofibromatosis type 1 during childhood.
Dev Neuropsychol
; 34(6): 736-48, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20183730