Detalhe da pesquisa
1.
New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN.
Physiol Rev
; 104(1): 399-472, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37615954
2.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
3.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
4.
What have we learned from the real-world efficacy of FFA in DS and LGS? A post-marketing study in clinical practice.
Epilepsy Behav
; 151: 109620, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194770
5.
Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: A qualitative study.
Dev Med Child Neurol
; 66(2): 195-205, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37482918
6.
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Clin Genet
; 104(5): 598-603, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37489290
7.
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Epilepsia
; 64(1): 139-151, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196777
8.
DNA methylation-based classification of malformations of cortical development in the human brain.
Acta Neuropathol
; 143(1): 93-104, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797422
9.
Fenfluramine significantly reduces day-to-day seizure burden by increasing number of seizure-free days and time between seizures in patients with Dravet syndrome: A time-to-event analysis.
Epilepsia
; 63(1): 130-138, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34676542
10.
Perampanel monotherapy for the treatment of epilepsy: Clinical trial and real-world evidence.
Epilepsy Behav
; 136: 108885, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150304
11.
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
12.
Outcomes from a Spanish Expanded Access Program on cannabidiol treatment in pediatric and adult patients with epilepsy.
Epilepsy Behav
; 137(Pt A): 108958, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327646
13.
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Dev Med Child Neurol
; 64(6): 789-798, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080266
14.
Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial.
Epilepsia
; 62(9): 2228-2239, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287833
15.
Initiating antiepilepsy treatment: An update of expert consensus in Spain.
Epilepsy Behav
; 114(Pt A): 107540, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33243687
16.
Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort.
Epilepsy Behav
; 118: 107946, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33848848
17.
Impact of COVID-19 on the lives and psychosocial well-being of persons with epilepsy during the third trimester of the pandemic: Results from an international, online survey.
Epilepsy Behav
; 116: 107800, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33571838
18.
Identifying key unmet needs and value drivers in the treatment of focal-onset seizures (FOS) in patients with drug-resistant epilepsy (DRE) in Spain through Multi-Criteria Decision Analysis (MCDA).
Epilepsy Behav
; 122: 108222, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34371462
19.
Treatment with fenfluramine in patients with Dravet syndrome has no long-term effects on weight and growth.
Epilepsy Behav
; 122: 108212, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352670
20.
Epidaily, a scale for comprehensive functional assessment of patients with epilepsy.
Epilepsy Behav
; 114(Pt A): 107570, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33234457