Search details
1.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Am J Med Genet A
; 191(5): 1282-1292, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36826837
2.
Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report.
BMC Pediatr
; 23(1): 453, 2023 09 09.
Article
in English
| MEDLINE | ID: mdl-37689631
3.
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Am J Hum Genet
; 104(1): 94-111, 2019 01 03.
Article
in English
| MEDLINE | ID: mdl-30609410
4.
Delineating the epilepsy phenotype of NGLY1 deficiency.
J Inherit Metab Dis
; 45(3): 571-583, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35243670
5.
Randomized trial of lacosamide versus fosphenytoin for nonconvulsive seizures.
Ann Neurol
; 83(6): 1174-1185, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29733464
6.
Plasma cytokines associated with febrile status epilepticus in children: A potential biomarker for acute hippocampal injury.
Epilepsia
; 58(6): 1102-1111, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28448686
7.
Strategies to Maximize Enrollment in a Prospective Study of Comatose Children in the PICU.
Pediatr Crit Care Med
; 17(3): 246-50, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26825045
8.
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Am J Hum Genet
; 91(2): 293-302, 2012 Aug 10.
Article
in English
| MEDLINE | ID: mdl-22863189
9.
Electrographic seizures after convulsive status epilepticus in children and young adults: a retrospective multicenter study.
J Pediatr
; 164(2): 339-46.e1-2, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24161223
10.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet
; 86(3): 454-61, 2010 Mar 12.
Article
in English
| MEDLINE | ID: mdl-20206336
11.
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Am J Hum Genet
; 86(5): 707-18, 2010 May 14.
Article
in English
| MEDLINE | ID: mdl-20398883
12.
Electroencephalography monitoring in critically ill children: current practice and implications for future study design.
Epilepsia
; 54(8): 1419-27, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23848569
13.
Electroencephalographic monitoring in the pediatric intensive care unit.
Curr Neurol Neurosci Rep
; 13(3): 330, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23335026
14.
Automated Interpretation of Clinical Electroencephalograms Using Artificial Intelligence.
JAMA Neurol
; 80(8): 805-812, 2023 08 01.
Article
in English
| MEDLINE | ID: mdl-37338864
15.
Oculogyric crises secondary to lamotrigine overdosage.
Epilepsia
; 52(3): e4-6, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21395567
16.
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
Brain
; 133(Pt 7): 2136-47, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20522523
17.
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
Epilepsy Behav
; 20(3): 494-501, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21292558
18.
Structural connectivity of the frontal lobe in children with drug-resistant partial epilepsy.
Epilepsy Behav
; 21(1): 65-70, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21497558
19.
Alterations in coordinated EEG activity precede the development of seizures in comatose children.
Clin Neurophysiol
; 132(7): 1505-1514, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34023630
20.
Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa.
Neurology
; 94(7): 326-328, 2020 02 18.
Article
in English
| MEDLINE | ID: mdl-32015175