Eric Samarut
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Explore the profile of Eric Samarut including associated specialties, affiliations and a list of published articles.
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36
Citations
510
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Recent Articles
1.
Laflamme N, Triassi V, Martineau L, Toffa D, Letourneau-Guillon L, Laplante A, et al.
Am J Med Genet A
. 2024 Sep;
197(1):e63860.
PMID: 39268972
We studied three brothers and a maternal half-brother featuring global developmental delay, mild to moderate intellectual disability, epilepsy, microcephaly, and strabismus. All had bilateral perisylvian and perirolandic polymicrogyria, while some...
2.
Lee J, Wang T, Wiggins K, Lu P, Underwood C, Ochenkowska K, et al.
iScience
. 2024 Mar;
27(4):109293.
PMID: 38495824
The classic view of the lysosome as a static recycling center has been replaced with one of a dynamic and mobile hub of metabolic regulation. This revised view raises new...
3.
Nieoczym D, Marszalek-Grabska M, Szalak R, Kundap U, Kaczor A, Wrobel T, et al.
Biomed Pharmacother
. 2024 Feb;
172:116234.
PMID: 38325264
Previously, we demonstrated that palmatine (PALM) - an isoquinoline alkaloid from Berberis sibrica radix, exerted antiseizure activity in the pentylenetetrazole (PTZ)-induced seizure assay in larval zebrafish. The aim of the...
4.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur F, Liang R, et al.
Brain
. 2024 Jan;
147(5):1822-1836.
PMID: 38217872
Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we...
5.
Nguyen E, Tetreault M, Toffa D, Cossette P, Samarut E, Nguyen D
Am J Med Genet A
. 2023 Apr;
191(7):1942-1947.
PMID: 37046053
The sodium leak channel (NALCN) gene encodes a sodium leak channel that plays an important role in the regulation of the resting membrane potential and the control of neuronal excitability....
6.
Ochenkowska K, Herold A, Samarut E
Front Mol Neurosci
. 2022 Jul;
15:944693.
PMID: 35875659
Personalized medicine is currently one of the most promising tools which give hope to patients with no suitable or no available treatment. Patient-specific approaches are particularly needed for common diseases...
7.
Li J, Toffa D, Lefebvre M, Tetreault M, Cossette P, Samarut E, et al.
Can J Neurol Sci
. 2022 Apr;
50(3):411-417.
PMID: 35478072
Background: There is limited data on the utility, yield, and cost efficiency of genetic testing in adults with epilepsy. We aimed to describe the yield and utility of genetic panels...
8.
Heylen L, Pham D, De Meulemeester A, Samarut E, Skiba A, Copmans D, et al.
Front Mol Neurosci
. 2021 Nov;
14:753936.
PMID: 34720874
Epilepsy is a common disorder of the brain characterized by spontaneous recurrent seizures, which develop gradually during a process called epileptogenesis. The mechanistic processes underlying the changes of brain tissue...
9.
Choo B, Kundap U, Mohd Faudzi S, Abas F, Shaikh M, Samarut E
Biomed Pharmacother
. 2021 Aug;
142:112035.
PMID: 34411917
Seizures are the outward manifestation of abnormally excessive or synchronous brain activity. While seizures can be somewhat symptomatically managed with anti-epileptic drugs (AEDs), many patients are still refractory to the...
10.
Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression
Jamadagni P, Breuer M, Schmeisser K, Cardinal T, Kassa B, Parker J, et al.
EMBO Rep
. 2021 Apr;
22(6):e50958.
PMID: 33900016
Mutations in the chromatin remodeller-coding gene CHD7 cause CHARGE syndrome (CS). CS features include moderate to severe neurological and behavioural problems, clinically characterized by intellectual disability, attention-deficit/hyperactivity disorder and autism...