Detalhe da pesquisa
1.
A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria.
Neuropediatrics
; 50(6): 391-394, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31486053
2.
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
Epileptic Disord
; 16(2): 208-12, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24776920
3.
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.
Hum Genome Var
; 10(1): 20, 2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353494
4.
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.
Am J Med Genet A
; 155A(1): 130-3, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204220
5.
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
Am J Med Genet A
; 155A(10): 2584-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910242
6.
Temporal changes in brain MRI findings in Rasmussen syndrome.
Epileptic Disord
; 13(3): 229-39, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926050
7.
Early-onset absence epilepsy at eight months of age.
Epileptic Disord
; 13(4): 417-21, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258047
8.
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Nat Commun
; 12(1): 2107, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833240
9.
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.
Brain Dev
; 30(5): 349-55, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18065176
10.
Brain maturation-related spike localization in Panayiotopoulos syndrome: magnetoencephalographic study.
Pediatr Neurol
; 38(2): 104-10, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18206791
11.
Magnetoencephalographic findings of Panayiotopoulos syndrome with frontal epileptic discharges.
Pediatr Neurol
; 36(3): 190-4, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17352956
12.
Megalencephaly and polymicrogyria with polydactyly syndrome.
Pediatr Neurol
; 37(2): 148-51, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17675034
13.
[An infant with multiple cavernous angiomas presenting with frequent epileptic seizures - detection of epileptic focus by magnetoencephalography].
No To Hattatsu
; 39(4): 295-9, 2007 Jul.
Artigo
em Japonês
| MEDLINE | ID: mdl-17633088
14.
Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.
Brain Dev
; 39(3): 266-270, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27743887
15.
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
Brain Dev
; 38(3): 285-92, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26482601
16.
Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy.
Brain Dev
; 27(2): 127-34, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15668053
17.
Gómez-López-Hernández syndrome in a Japanese patient: a case report.
Brain Dev
; 37(3): 356-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24856766
18.
Rub epilepsy in an infant with Turner syndrome.
Brain Dev
; 37(7): 725-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480382
19.
[A case of bilateral paramedian thalamic infarction in childhood with the sensory disturbance and the sensory loss of taste].
No To Hattatsu
; 36(1): 65-9, 2004 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-14737867
20.
[Serial MEG change in a boy with Landau-Kleffner syndrome].
No To Hattatsu
; 36(5): 395-400, 2004 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-15461028