Detalhe da pesquisa
1.
Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome.
Neuropediatrics
; 55(1): 9-15, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798920
2.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 107(4): 683-697, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853554
3.
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
J Neurol Neurosurg Psychiatry
; 94(10): 806-815, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225406
4.
The seasonality of new-onset refractory status epilepticus (NORSE).
Epilepsia
; 64(6): e112-e117, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013696
5.
Perampanel as precision therapy in rare genetic epilepsies.
Epilepsia
; 64(4): 866-874, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734057
6.
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Am J Hum Genet
; 102(4): 557-573, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576218
7.
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Neuropediatrics
; 51(5): 368-372, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392612
8.
New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives.
Epilepsia
; 59(4): 745-752, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29476535
9.
Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions.
Epilepsia
; 59(4): 739-744, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29399791
10.
Febrile Infection-Related Epilepsy Syndrome: Clinical Review and Hypotheses of Epileptogenesis.
Neuropediatrics
; 48(1): 5-18, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27919115
11.
Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.
Neuropathology
; 33(1): 59-67, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22537151
12.
Febrile infection-related epilepsy syndrome in childhood: A clinical review and practical approach.
Seizure
; 111: 215-222, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703593
13.
No evidence of neuronal/glial autoantibodies in febrile infection-related epilepsy syndrome (FIRES): a prospective clinic-serologic analysis.
Front Neurosci
; 17: 1221761, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37599999
14.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology
; 101(9): e879-e891, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407264
15.
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.
Neuropediatrics
; 43(4): 209-16, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22911482
16.
The entire dural sinus tree is compressed in patients with idiopathic intracranial hypertension: a longitudinal, volumetric magnetic resonance imaging study.
Neuroradiology
; 54(1): 25-33, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21340576
17.
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.
Dev Med Child Neurol
; 54(12): 1144-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23066759
18.
New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES) of unknown aetiology: A comparison of the incomparable?
Seizure
; 96: 18-21, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042004
19.
Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome?
Epilepsia
; 52 Suppl 8: 28-30, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21967356
20.
A retrospective population-based study on seizures related to childhood vaccination.
Epilepsia
; 52(8): 1506-12, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21692791