Search details
1.
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Hum Mol Genet
; 33(6): 520-529, 2024 Feb 28.
Article
in English
| MEDLINE | ID: mdl-38129107
2.
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
J Med Genet
; 60(10): 1021-1025, 2023 10.
Article
in English
| MEDLINE | ID: mdl-36849228
3.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Article
in English
| MEDLINE | ID: mdl-35393335
4.
NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.
Epilepsia
; 64(6): e127-e134, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37014259
5.
The M-current works in tandem with the persistent sodium current to set the speed of locomotion.
PLoS Biol
; 18(11): e3000738, 2020 11.
Article
in English
| MEDLINE | ID: mdl-33186352
6.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Article
in English
| MEDLINE | ID: mdl-33811134
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.
Article
in English
| MEDLINE | ID: mdl-35389519
8.
Mouse models of Kcnq2 dysfunction.
Epilepsia
; 63(11): 2813-2826, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36047730
9.
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.
Article
in English
| MEDLINE | ID: mdl-35718920
10.
Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome.
Neurobiol Dis
; 149: 105235, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33383186
11.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34244665
12.
Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome.
Int J Mol Sci
; 22(9)2021 Apr 21.
Article
in English
| MEDLINE | ID: mdl-33919253
13.
A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Epilepsia
; 61(5): 868-878, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32239694
14.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia
; 61(7): e71-e78, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32645220
15.
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.
Article
in English
| MEDLINE | ID: mdl-29997391
16.
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(7): 1667-1671, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30783266
17.
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(6): 1308-1318, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30356099
18.
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Epilepsia
; 60(5): 845-856, 2019 05.
Article
in English
| MEDLINE | ID: mdl-31026061
19.
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
Hum Mutat
; 39(7): 934-938, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29663568
20.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-30167850