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.
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
Hum Mol Genet
; 29(24): 3859-3871, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043365
3.
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
4.
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Int J Mol Sci
; 22(23)2021 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884460
5.
Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children.
Behav Brain Funct
; 12(1): 2, 2016 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26746237
6.
Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.
J Autism Dev Disord
; 2024 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38795288
7.
Effectiveness and tolerability of brivaracetam in patients with epilepsy stratified by comorbidities and etiology in the real world: 12-month subgroup data from the international EXPERIENCE pooled analysis.
J Neurol
; 271(6): 3169-3185, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436680
8.
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Front Cell Dev Biol
; 12: 1321282, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38505260
9.
Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series.
Epileptic Disord
; 25(5): 758-768, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584565
10.
Fanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review.
Pediatr Neurol
; 130: 53-59, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35364461
11.
Smell and Taste Dysfunction in Pediatric Patients With SARS-CoV-2 Infection.
Pediatr Neurol
; 136: 28-33, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084419
12.
Efficacy of Brivaracetam in children with epilepsy.
Epilepsy Res
; 177: 106757, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34530305
13.
Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome.
Eur J Paediatr Neurol
; 27: 60-66, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376082
14.
Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
Epilepsy Res
; 154: 39-41, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31035243
15.
Central sleep apnea in children with obstructive sleep apnea syndrome and improvement following adenotonsillectomy.
Pediatr Pulmonol
; 54(11): 1670-1675, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373175
16.
[Do children with attention deficit and hyperactivity disorder (ADHD) have a diferent gait pattern? Relationship between idiopathic toe-walking and ADHD]. / ¿Caminan de manera diferente los niños con trastorno por déficit de atención hiperactividad (TDAH)? Relación entre marcha de puntillas idiopática y TDAH.
An Pediatr (Engl Ed)
; 88(4): 191-195, 2018 Apr.
Artigo
em Espanhol
| MEDLINE | ID: mdl-28705637
17.
Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects.
Sci Rep
; 7(1): 10391, 2017 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28871191
18.
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
PLoS One
; 12(11): e0188978, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29190809
19.
[Insomnia in children and adolescents. A consensus document]. / Insomnio en niños y adolescentes. Documento de consenso.
An Pediatr (Barc)
; 86(3): 165.e1-165.e11, 2017 Mar.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27476002
20.
[The importance of sleep problems in children with headache and other neurodevelopmental disorders in neuropaediatric services]. / Importancia de los problemas de sueño en los niños con cefalea y otros trastornos del neurodesarrollo en las consultas de neuropediatria.
Rev Neurol
; 62(2): 61-7, 2016 Jan 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-26758352