Search details
1.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 65(5): 1439-1450, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38491959
2.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Cereb Cortex
; 33(17): 9709-9717, 2023 08 23.
Article
in English
| MEDLINE | ID: mdl-37429835
3.
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Epilepsia
; 64(7): e148-e155, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37203213
4.
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
Epilepsia
; 64(12): e222-e228, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37746765
5.
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Pharmacol Res
; 160: 105200, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32942014
6.
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.
Mov Disord
; 2024 Apr 21.
Article
in English
| MEDLINE | ID: mdl-38643413
7.
Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy".
Neuropediatrics
; 52(2): 153, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33111300
8.
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
Front Cell Neurosci
; 18: 1367838, 2024.
Article
in English
| MEDLINE | ID: mdl-38644974
9.
Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.
Pediatr Neurol
; 147: 24-27, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37542971
10.
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Neurology
; 100(12): e1234-e1247, 2023 03 21.
Article
in English
| MEDLINE | ID: mdl-36599696
11.
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy.
Neurol Genet
; 8(5): e200022, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-36046422
12.
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome.
Epileptic Disord
; 23(5): 745-748, 2021 Oct 01.
Article
in English
| MEDLINE | ID: mdl-34583915
13.
Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.
Epileptic Disord
; 23(4): 643-647, 2021 Aug 01.
Article
in English
| MEDLINE | ID: mdl-34259158
14.
CDKL5 deficiency disorder in males: Five new variants and review of the literature.
Eur J Paediatr Neurol
; 33: 9-20, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33989939
15.
SYNGAP1-DEE: A visual sensitive epilepsy.
Clin Neurophysiol
; 132(4): 841-850, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33639450
16.
Early Parkinsonism in a Senegalese girl with Lafora disease.
Epileptic Disord
; 22(2): 233-236, 2020 Apr 01.
Article
in English
| MEDLINE | ID: mdl-32301727
17.
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.
Eur J Med Genet
; 63(4): 103848, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31972370
18.
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
J Neurol
; 266(6): 1439-1448, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-30895386
19.
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
Epilepsy Res
; 153: 49-58, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30986657
20.
Diaper changing-induced reflex seizures in CDKL5-related epilepsy.
Epileptic Disord
; 20(5): 428-433, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-30378547