Detalhe da pesquisa
1.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
2.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179230
3.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276004
4.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152250
5.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680
6.
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Epilepsia
; 60(1): 155-164, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30525188
7.
Outcomes and comorbidities of SCN1A-related seizure disorders.
Epilepsy Behav
; 90: 252-259, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30527252
8.
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
Epilepsia
; 59(6): 1154-1165, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750338
9.
Anti-GAD antibodies in a cohort of neuropsychiatric patients.
Epilepsy Behav
; 82: 25-28, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29579551
10.
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Epilepsia
; 58(3): 436-445, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28139826
11.
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
J Med Genet
; 52(5): 330-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25725044
12.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265257
13.
Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome.
J Neurol Neurosurg Psychiatry
; 89(6): 668-670, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28951496
14.
Interobserver agreement of the old and the newly proposed ILAE epilepsy classification in children.
Epilepsia
; 54(4): 726-32, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23373790
15.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Biochim Biophys Acta Mol Basis Dis
; 1869(8): 166808, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454773
16.
The cognitive effects of interictal epileptiform EEG discharges and short nonconvulsive epileptic seizures.
Epilepsia
; 53(6): 1051-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22554146
17.
Interictal discharges and cognition.
Epilepsy Behav
; 22(1): 134-6, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21767995
18.
Correlation between language impairment and problems in motor development in children with rolandic epilepsy.
Epilepsy Behav
; 22(3): 527-31, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937281
19.
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report.
Neurol Genet
; 7(2): e564, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709034
20.
Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.
Neurol Genet
; 6(3): e418, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337345