Detalhe da pesquisa
1.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380699
2.
Time to onset of cannabidiol treatment effect and resolution of adverse events in tuberous sclerosis complex: Post hoc analysis of randomized controlled phase 3 trial GWPCARE6.
Epilepsia
; 63(5): 1189-1199, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35175622
3.
The contribution of fenfluramine to the treatment of Dravet syndrome in Spain through Multi-Criteria Decision Analysis.
Epilepsy Behav
; 132: 108711, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35588562
4.
Add-on cannabidiol in patients with Dravet syndrome: Results of a long-term open-label extension trial.
Epilepsia
; 62(10): 2505-2517, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34406656
5.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
6.
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
J Med Genet
; 50(3): 194-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23355746
7.
Musicogenic seizures in Dravet syndrome.
Dev Med Child Neurol
; 55(7): 668-70, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23517304
8.
Patient profile, management, and quality of life associated with Dravet syndrome: a cross-sectional, multicentre study of 80 patients in Spain.
Sci Rep
; 13(1): 3355, 2023 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849632
9.
Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome.
J Mol Med (Berl)
; 101(12): 1587-1601, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37819378
10.
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.
Mov Disord Clin Pract
; 10(11): 1671-1679, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982109
11.
The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study.
Front Neurol
; 13: 975034, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36119672
12.
Neuroplasticity during the transition period: How the adolescent brain can recover from aphasia. A pilot study.
Brain Dev
; 43(4): 556-562, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33451879
13.
Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations.
Mol Ther Nucleic Acids
; 25: 585-602, 2021 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34589280
14.
Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome.
Genet Med
; 12(8): 532-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20535019
15.
A Simple Technique to Repair a Large Thoracolumbar Myelomeningocele.
J Craniofac Surg
; 26(5): e463-4, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26091051
16.
Abnormal brain gamma oscillations in response to auditory stimulation in Dravet syndrome.
Eur J Paediatr Neurol
; 24: 134-141, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879226
17.
Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial.
JAMA Neurol
; 77(5): 613-621, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32119035
18.
Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.
JAMA Neurol
; 77(3): 300-308, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31790543
19.
[New anti-epileptic drugs in Paediatrics]. / Nuevos fármacos antiepilépticos en Pediatría.
An Pediatr (Engl Ed)
; 91(6): 415.e1-415.e10, 2019 Dec.
Artigo
em Espanhol
| MEDLINE | ID: mdl-31708334
20.
Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation.
Sci Rep
; 9(1): 14172, 2019 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578435