Detalles de la búsqueda
1.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36018820
2.
Fenfluramine below the age of 2 years in Dravet syndrome: What about safety and efficacy?
Epilepsia
; 65(2): e7-e13, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38065833
3.
Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.
Brain
; 146(7): 2694-2710, 2023 07 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36806388
4.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Cereb Cortex
; 33(17): 9709-9717, 2023 08 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37429835
5.
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Epilepsia
; 64(5): 1331-1347, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36636894
6.
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Epilepsia
; 64(5): 1351-1367, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36779245
7.
Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
Neuropediatrics
; 54(6): 402-406, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37329878
8.
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
Epilepsy Behav
; 147: 109436, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37717460
9.
Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment.
Epilepsy Behav
; 138: 108994, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36463826
10.
The epilepsy-autism spectrum disorder phenotype in the era of molecular genetics and precision therapy.
Epilepsia
; 63(1): 6-21, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34741464
11.
International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) including Febrile Infection-Related Epilepsy Syndrome (FIRES): Summary and Clinical Tools.
Epilepsia
; 2022 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35951466
12.
International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) incl. Febrile Infection-Related Epilepsy Syndrome (FIRES): Statements and Supporting Evidence.
Epilepsia
; 2022 Aug 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-35997591
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34676542
14.
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1349-1397, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503712
15.
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1333-1348, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503715
16.
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1475-1499, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503716
17.
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1398-1442, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503717
18.
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1443-1474, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503725
19.
Developmental and epileptic encephalopathies: what we do and do not know.
Brain
; 144(1): 32-43, 2021 02 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33279965
20.
New paradigms for the treatment of pediatric monogenic epilepsies: Progressing toward precision medicine.
Epilepsy Behav
; 131(Pt B): 107961, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33867301