Detalhe da pesquisa
1.
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Hum Mol Genet
; 33(6): 520-529, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129107
2.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
3.
GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe Epilepsy.
Ann Neurol
; 94(4): 745-761, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341588
4.
Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
Prenat Diagn
; 44(3): 364-368, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148030
5.
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenat Diagn
; 43(6): 746-755, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173814
6.
Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study.
Health Expect
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932892
7.
Time-limited alterations in cortical activity of a knock-in mouse model of KCNQ2-related developmental and epileptic encephalopathy.
J Physiol
; 600(10): 2429-2460, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35389519
8.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
9.
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Int J Mol Sci
; 23(15)2022 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955641
10.
Real-life use of videos in pediatric epilepsy consultations.
Epilepsy Behav
; 114(Pt A): 107636, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309428
11.
Consensus statements on the information to deliver after a febrile seizure.
Eur J Pediatr
; 180(9): 2993-2999, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33866403
12.
Early patterns of activity in the developing cortex: Focus on the sensorimotor system.
Semin Cell Dev Biol
; 76: 120-129, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28899717
13.
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Genet Med
; 22(11): 1887-1891, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32565546
14.
Relationship between PET metabolism and SEEG epileptogenicity in focal lesional epilepsy.
Eur J Nucl Med Mol Imaging
; 47(13): 3130-3142, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430581
15.
Open-label study to investigate the safety and efficacy of adjunctive perampanel in pediatric patients (4 to <12 years) with inadequately controlled focal seizures or generalized tonic-clonic seizures.
Epilepsia
; 61(1): 125-137, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912493
16.
A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Epilepsia
; 61(5): 868-878, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32239694
17.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia
; 61(7): e71-e78, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645220
18.
Diadenosine-Polyphosphate Analogue AppCH2ppA Suppresses Seizures by Enhancing Adenosine Signaling in the Cortex.
Cereb Cortex
; 29(9): 3778-3795, 2019 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295710
19.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet
; 99(6): 1368-1376, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889060
20.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997391