Search details
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37541188
2.
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?
Brain
; 2024 Apr 20.
Article
in English
| MEDLINE | ID: mdl-38643018
3.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36385166
4.
Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes.
Epilepsia
; 64(9): 2260-2273, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37264783
5.
Predicting seizure outcome after epilepsy surgery: Do we need more complex models, larger samples, or better data?
Epilepsia
; 64(8): 2014-2026, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37129087
6.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brain
; 145(11): 3816-3831, 2022 11 21.
Article
in English
| MEDLINE | ID: mdl-35696452
7.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Article
in English
| MEDLINE | ID: mdl-30982612
8.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906499
9.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33106617
10.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33299146
11.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33410528
12.
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Ann Neurol
; 86(6): 821-831, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31618474
13.
The expanding spectrum of movement disorders in genetic epilepsies.
Dev Med Child Neurol
; 62(2): 178-191, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31784983
14.
Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.
Cochrane Database Syst Rev
; 1: CD001905, 2018 01 10.
Article
in English
| MEDLINE | ID: mdl-29320603
15.
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
J Med Genet
; 53(5): 310-7, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26993267
16.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33686260
17.
RARS2 mutations in a sibship with infantile spasms.
Epilepsia
; 57(5): e97-e102, 2016 May.
Article
in English
| MEDLINE | ID: mdl-27061686
18.
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Dev Med Child Neurol
; 58(4): 416-20, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26645412
19.
SLC25A22 is a novel gene for migrating partial seizures in infancy.
Ann Neurol
; 74(6): 873-82, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24596948
20.
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.
Brain
; 136(Pt 5): 1578-91, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23599387