Helenius J Schelhaas
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Explore the profile of Helenius J Schelhaas including associated specialties, affiliations and a list of published articles.
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56
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2213
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Recent Articles
1.
Kloosterman I, Haenen A, Poortvliet-Koedam E, Lazeron R, Schelhaas H, van Ool J
Epilepsia
. 2024 Aug;
65(10):3083-3090.
PMID: 39120123
Objective: To describe the characteristics of psychogenic non-epileptic (functional) seizures (PNES) in adults with epilepsy and intellectual disability (ID) and to establish differences and risk factors regarding psychosocial functioning between...
2.
Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, DAmico A, Cabet S, et al.
Epilepsia
. 2024 Jul;
65(9):2728-2750.
PMID: 38953796
Objective: DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34...
3.
van Hugte E, Lewerissa E, Wu K, Scheefhals N, Parodi G, van Voorst T, et al.
Brain
. 2023 Jul;
146(12):5153-5167.
PMID: 37467479
Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioural problems and developmental delay. Eighty per cent of patients with Dravet syndrome have a mutation in SCN1A, encoding...
4.
Wei A, Wakenight P, Zwingman T, Bard A, Sahai N, Willemsen M, et al.
J Neurophysiol
. 2022 May;
128(1):40-61.
PMID: 35583973
We identified six novel de novo human variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense...
5.
Snoeijen-Schouwenaars F, Young C, Rowe C, van Ool J, Schelhaas H, Shankar R
Epilepsy Behav
. 2021 Oct;
124:108355.
PMID: 34624802
Background: Around 25% of people with Intellectual Disability (PwID) have comorbid epilepsy with seizures in up to two-thirds being drug-resistant. Little is known of the general characteristics and prescribing practices...
6.
Stamberger H, Hammer T, Gardella E, Vlaskamp D, Bertelsen B, Mandelstam S, et al.
Genet Med
. 2020 Nov;
23(2):363-373.
PMID: 33144681
Purpose: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic...
7.
Gillis R, Wammes-van der Heijden E, Schelhaas H, Tan I, Festen D, Majoie M
Acta Neurol Belg
. 2020 Mar;
121(3):677-684.
PMID: 32157673
Patients with intellectual disability (ID) are often excluded from clinical trials, and little is known about the best approach to treat their epilepsy. Brivaracetam (BRV) is a new antiepileptic drug...
8.
Snoeijen-Schouwenaars F, van Ool J, Tan I, Aldenkamp A, Schelhaas H, Hendriksen J
Acta Neurol Scand
. 2019 Mar;
139(6):519-525.
PMID: 30820944
Objective: Depression and anxiety symptoms are common among patients with epilepsy, but are relatively under-researched in patients with both epilepsy and intellectual disability (ID). The aim was to investigate whether...
9.
Snoeijen-Schouwenaars F, van Ool J, Verhoeven J, Mierlo P, Braakman H, Smeets E, et al.
Epilepsia
. 2018 Dec;
60(1):155-164.
PMID: 30525188
Objective: Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily...
10.
Johannesen K, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki A, et al.
Epilepsia
. 2018 Jan;
59(2):389-402.
PMID: 29315614
Objective: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort...