Detalhe da pesquisa
1.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800363
2.
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
Mov Disord
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725190
3.
EEG microstates show different features in focal epilepsy and psychogenic nonepileptic seizures.
Epilepsia
; 65(4): 974-983, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38289522
4.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 107(4): 683-697, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853554
5.
[Interactions between anti-seizure medications and recommendations for combination treatment]. / Interaktionen zwischen anfallssupprimierenden Medikamenten und Empfehlungen für Kombinationstherapien.
Nervenarzt
; 94(2): 149-158, 2023 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-36695895
6.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Am J Hum Genet
; 104(6): 1060-1072, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104773
7.
Postictal Psychosis in Epilepsy: A Clinicogenetic Study.
Ann Neurol
; 90(3): 464-476, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34288049
8.
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Dev Med Child Neurol
; 64(6): 789-798, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080266
9.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
J Neurol Neurosurg Psychiatry
; 92(10): 1044-1052, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903184
10.
[Decision support systems, assistance systems and telemedicine in epileptology]. / Decision-support-Systeme, Assistenzsysteme und Telemedizin in der Epileptologie.
Nervenarzt
; 92(2): 95-106, 2021 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-33245402
11.
Desynchronization of temporal lobe theta-band activity during effective anterior thalamus deep brain stimulation in epilepsy.
Neuroimage
; 218: 116967, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445879
12.
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.
N Engl J Med
; 377(17): 1648-1656, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29069555
13.
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Epilepsia
; 61(5): 995-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32469098
14.
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Epilepsia
; 61(4): 657-666, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141622
15.
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Brain
; 142(2): 376-390, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30615093
16.
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Neuropediatrics
; 51(5): 368-372, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392612
17.
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Genet Med
; 21(11): 2496-2503, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056551
18.
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Genet Med
; 21(10): 2216-2223, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976099
19.
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Epilepsia
; 60(5): e31-e36, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30719712
20.
The glucose transporter type 1 (Glut1) syndromes.
Epilepsy Behav
; 91: 90-93, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30076047