Detalhe da pesquisa
1.
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
PLoS Comput Biol
; 19(3): e1010959, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36877742
2.
Technological and computational approaches to detect somatic mosaicism in epilepsy.
Neurobiol Dis
; 184: 106208, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37343892
3.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet
; 102(2): 98-109, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35616059
4.
Successful treatment of adult Dravet syndrome patients with cenobamate.
Epilepsia
; 63(12): e164-e171, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36176237
5.
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
Inglês
| MEDLINE | ID: mdl-35080266
6.
Do all patients in the epilepsy monitoring unit experience the same level of comfort? A quantitative exploratory secondary analysis.
J Adv Nurs
; 78(7): 2004-2014, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-34837405
7.
Delirium REduction after administration of melatonin in acute ischemic stroke (DREAMS): A propensity score-matched analysis.
Eur J Neurol
; 28(6): 1958-1966, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33657679
8.
Are AI language models such as ChatGPT ready to improve the care of individuals with epilepsy?
Epilepsia
; 64(5): 1195-1199, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36869421
9.
Assessing comfort in the epilepsy monitoring unit: Psychometric testing of an instrument.
Epilepsy Behav
; 112: 107460, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33181885
10.
Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors.
medRxiv
; 2024 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38766179
11.
Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records.
Brain Commun
; 6(2): fcae090, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38524155
12.
Sponge EEG is equivalent regarding signal quality, but faster than routine EEG.
Clin Neurophysiol Pract
; 8: 58-64, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37033684
13.
Modeling Clinical Guidelines for an Epilepsy-CDSS: The EDiTh Project.
Stud Health Technol Inform
; 302: 611-612, 2023 May 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37203761
14.
Breath-Hold-Triggered BOLD fMRI in Drug-Resistant Nonlesional Focal Epilepsy-A Pilot Study.
Clin Neuroradiol
; 2023 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38082172
15.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
EBioMedicine
; 98: 104855, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38251463
16.
Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.
Epilepsia Open
; 8(2): 360-370, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36693811
17.
Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.
EBioMedicine
; 81: 104115, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35759918
18.
Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers.
Seizure
; 95: 4-10, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34953286
19.
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
EBioMedicine
; 83: 104234, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-36029553
20.
Seizures, semiology, and syndromes: A narrative review.
Seizure
; 92: 230-233, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34607271