Search details
1.
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex.
Acta Neuropathol
; 147(1): 80, 2024 May 07.
Article
in English
| MEDLINE | ID: mdl-38714540
2.
Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes.
Epilepsy Behav
; 154: 109726, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38513571
3.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Ann Neurol
; 89(2): 304-314, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33180985
4.
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex.
Cell Mol Neurobiol
; 42(8): 2863-2892, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-34709498
5.
Increased expression of complement components in tuberous sclerosis complex and focal cortical dysplasia type 2B brain lesions.
Epilepsia
; 63(2): 364-374, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34904712
6.
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study.
Dev Med Child Neurol
; 64(4): 495-501, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34601720
7.
Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
J Pediatr
; 233: 156-162.e2, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33640330
8.
Balloon cells promote immune system activation in focal cortical dysplasia type 2b.
Neuropathol Appl Neurobiol
; 47(6): 826-839, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34003514
9.
MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis.
Neuropathol Appl Neurobiol
; 47(6): 796-811, 2021 10.
Article
in English
| MEDLINE | ID: mdl-33942341
10.
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Epilepsia
; 62(7): 1518-1527, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34002374
11.
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
Epilepsia
; 62(5): 1208-1219, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33778971
12.
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas.
Brain
; 143(1): 131-149, 2020 01 01.
Article
in English
| MEDLINE | ID: mdl-31834371
13.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
; 41(7): 1263-1279, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32196822
14.
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Genet Med
; 22(9): 1489-1497, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32461669
15.
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation.
Epilepsia
; 61(2): 216-227, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31876960
16.
The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(2): 398-408, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30093711
17.
Correction: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(8): 1896, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-30262923
18.
Correction to: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(7): 1671, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30158694
19.
Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex.
Cereb Cortex
; 28(10): 3665-3672, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-29939236
20.
miR147b: A novel key regulator of interleukin 1 beta-mediated inflammation in human astrocytes.
Glia
; 66(5): 1082-1097, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29384235