Detalhe da pesquisa
1.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
2.
Long-term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open-label extension trial.
Epilepsia
; 63(2): 426-439, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34957550
3.
Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.
Epilepsia
; 60(8): 1661-1669, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273778
4.
Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.
Epilepsy Behav
; 86: 131-137, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30006259
5.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
6.
SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2.
Neurol Genet
; 9(3): e200062, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057295
7.
Seizure characteristics in Pallister-Killian syndrome.
Am J Med Genet A
; 158A(12): 3026-32, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23169688
8.
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PLoS Genet
; 5(9): e1000649, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19763161
9.
On the edge-A diagnostic odyssey.
Clin Case Rep
; 10(4): e05688, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35425609
10.
Development, Implementation, and Use of a Neurology Therapeutics Committee.
Child Neurol Open
; 6: 2329048X19830473, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30800699
11.
Disparities in Pediatric Epilepsy Remission Are Associated With Race and Ethnicity.
J Child Neurol
; 34(14): 928-936, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502509
12.
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
NPJ Genom Med
; 3: 22, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30109124
13.
Splenial corpus callosum lesion and hemifield visual color anomia associated with intracranial hypertension.
J Child Neurol
; 22(9): 1132-4, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17890415
14.
Prehospital intranasal midazolam for the treatment of pediatric seizures.
Pediatr Emerg Care
; 23(3): 148-53, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17413428
15.
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.
J Clin Transl Sci
; 1(6): 381-386, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29707261
16.
Efficacy of the ketogenic diet as a treatment option for epilepsy: meta-analysis.
J Child Neurol
; 21(3): 193-8, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16901419
17.
Educational Intervention Improves Compliance With AAN Guidelines for Return Epilepsy Visits: A Quality Improvement Project.
J Child Neurol
; 31(11): 1320-3, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27306884
18.
Seizure Action Plans Do Not Reduce Health Care Utilization in Pediatric Epilepsy Patients.
J Child Neurol
; 31(4): 433-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26245799
19.
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.
Lancet Neurol
; 15(3): 270-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26724101
20.
Cannabinoids for pediatric epilepsy? Up in smoke or real science?
Transl Pediatr
; 4(4): 271-82, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26835389