Search details
1.
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.
Hum Mol Genet
; 31(6): 901-913, 2022 03 21.
Article
in English
| MEDLINE | ID: mdl-34617111
2.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38288683
3.
Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.
Am J Med Genet A
; 188(5): 1556-1561, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35019233
4.
Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis.
Neuroimage
; 239: 118281, 2021 10 01.
Article
in English
| MEDLINE | ID: mdl-34147627
5.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34163037
6.
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain
; 142(10): 2996-3008, 2019 10 01.
Article
in English
| MEDLINE | ID: mdl-31532509
7.
Impact of mode of conception on neonatal and neurodevelopmental outcomes in preterm infants.
Hum Reprod
; 34(2): 356-364, 2019 02 01.
Article
in English
| MEDLINE | ID: mdl-30496424
8.
Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission.
Epilepsia
; 59(10): 1867-1880, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30178479
9.
Left Superior Temporal Gyrus Is Coupled to Attended Speech in a Cocktail-Party Auditory Scene.
J Neurosci
; 36(5): 1596-606, 2016 Feb 03.
Article
in English
| MEDLINE | ID: mdl-26843641
10.
Sleep in children triggers rapid reorganization of memory-related brain processes.
Neuroimage
; 134: 213-222, 2016 07 01.
Article
in English
| MEDLINE | ID: mdl-27039143
11.
Functional integration changes in regional brain glucose metabolism from childhood to adulthood.
Hum Brain Mapp
; 37(8): 3017-30, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27133021
12.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34522029
13.
Cortical kinematic processing of executed and observed goal-directed hand actions.
Neuroimage
; 119: 221-8, 2015 Oct 01.
Article
in English
| MEDLINE | ID: mdl-26123380
14.
A geometric correction scheme for spatial leakage effects in MEG/EEG seed-based functional connectivity mapping.
Hum Brain Mapp
; 36(11): 4604-21, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26331630
15.
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.
Epilepsia
; 56(8): 1185-97, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26122601
16.
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
Epilepsia
; 56(3): e26-32, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25690317
17.
Investigating the neural correlates of the Stroop effect with magnetoencephalography.
Brain Topogr
; 28(1): 95-103, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-24752907
18.
Impaired sleep-related consolidation of declarative memories in idiopathic focal epilepsies of childhood.
Epilepsy Behav
; 43: 16-23, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25546732
19.
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.
Ann Neurol
; 74(3): 496-501, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23686771
20.
Inter- and intra-subject variability of neuromagnetic resting state networks.
Brain Topogr
; 27(5): 620-34, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24777562