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.
Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.
Epilepsia;
65(1): 115-126, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37846648
3.
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
4.
Can commercially available wearable EEG devices be used for diagnostic purposes? An explorative pilot study.
Epilepsy Behav;
103(Pt A): 106507, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31645318
5.
A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany.
Epilepsia;
60(8): 1697-1710, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31247127
6.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia;
60(5): 830-844, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30968951
7.
Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.
Epilepsy Behav;
98(Pt A): 88-95, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31301455
8.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Am J Hum Genet;
93(5): 967-75, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24207121
9.
Neuronal networks in epileptic encephalopathies with CSWS.
Epilepsia;
57(8): 1245-55, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27302532
10.
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
Epilepsia;
56(3): e26-32, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25690317
11.
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Epilepsia;
56(12): e203-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26537434
12.
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Hum Mol Genet;
21(24): 5359-72, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22949513
13.
Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome.
Epilepsia;
54(5): 918-26, 2013 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23398550
14.
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
Epilepsia;
54(5): e74-80, 2013 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23409955
15.
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
PLoS Genet;
6(5): e1000962, 2010 May 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20502679
16.
Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany.
Orphanet J Rare Dis;
18(1): 98, 2023 04 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37120555
17.
In response: Neuronal networks in epileptic encephalopathies with CSWS.
Epilepsia;
58(7): 1297-1298, 2017 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28677856
18.
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.
Neurotherapeutics;
19(1): 334-341, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34997442
19.
Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome.
Neurol Res Pract;
4(1): 22, 2022 Jun 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35659154
20.
Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach.
Epilepsia;
52(10): e143-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21883175