Search details
1.
Patient family engagement and partnership: Pilot survey results in assessing behavior, communication, and quality of life in children with Lennox-Gastaut syndrome and other drug-resistant epilepsy.
Epilepsy Behav
; 148: 109451, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37783029
2.
Consequences: Bench to home.
Epilepsia
; 63 Suppl 1: S14-S24, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35999173
3.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(3): 431-439, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30100084
4.
Recommendations for development of acute seizure action plans (ASAPs) from an expert panel.
Epilepsy Behav
; 123: 108264, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34482230
5.
Psychosocial impact on siblings of patients with developmental and epileptic encephalopathies.
Epilepsy Behav
; 112: 107377, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32846306
6.
Nonseizure consequences of Dravet syndrome, KCNQ2-DEE, KCNB1-DEE, Lennox-Gastaut syndrome, ESES: A functional framework.
Epilepsy Behav
; 111: 107287, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32759067
7.
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Am J Hum Genet
; 95(6): 721-8, 2014 Dec 04.
Article
in English
| MEDLINE | ID: mdl-25480035
8.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(5): 826, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30388405
9.
MHC class I limits hippocampal synapse density by inhibiting neuronal insulin receptor signaling.
J Neurosci
; 34(35): 11844-56, 2014 Aug 27.
Article
in English
| MEDLINE | ID: mdl-25164678
10.
Incorporating the regulatory science of patient input for the epilepsy community.
Epilepsy Behav
; 103(Pt A): 106313, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31653604
11.
Caregiver-reported outcomes with real-world use of cannabidiol in Lennox-Gastaut syndrome and Dravet syndrome from the BECOME survey.
Epilepsy Res
; 200: 107280, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38183688
12.
Issues related to development of new antiseizure treatments.
Epilepsia
; 54 Suppl 4: 24-34, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23909851
13.
Proposed anti-seizure medication combinations with rufinamide in the treatment of Lennox-Gastaut syndrome: Narrative review and expert opinion.
Seizure
; 110: 42-57, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37321047
14.
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
Am J Med Genet A
; 158A(11): 2788-96, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22991235
15.
Seizure burden in severe early-life epilepsy: Perspectives from parents.
Epilepsia Open
; 4(2): 293-301, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-31168496
16.
Beyond "Ensuring Understanding": Toward a Patient-Partnered Neuroethics of Brain Device Research.
AJOB Neurosci
; 13(4): 241-244, 2022.
Article
in English
| MEDLINE | ID: mdl-36272165
17.
Reducing placebo exposure in trials: Considerations from the Research Roundtable in Epilepsy.
Neurology
; 89(14): 1507-1515, 2017 Oct 03.
Article
in English
| MEDLINE | ID: mdl-28878049
18.
Autism in several members of a family with generalized epilepsy with febrile seizures plus.
J Child Neurol
; 19(8): 597-603, 2004 Aug.
Article
in English
| MEDLINE | ID: mdl-15605469
19.
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
Nat Genet
; 44(8): 941-5, 2012 Jun 24.
Article
in English
| MEDLINE | ID: mdl-22729223
20.
Exome sequencing can improve diagnosis and alter patient management.
Sci Transl Med
; 4(138): 138ra78, 2012 Jun 13.
Article
in English
| MEDLINE | ID: mdl-22700954