Eric R Wengert
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Explore the profile of Eric R Wengert including associated specialties, affiliations and a list of published articles.
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18
Citations
261
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Recent Articles
1.
Miralles R, Boscia A, Kittur S, Hanflink J, Panchal P, Yorek M, et al.
JCI Insight
. 2024 Oct;
9(20).
PMID: 39435659
SCN8A developmental and epileptic encephalopathy (DEE) is a severe epilepsy syndrome resulting from mutations in the voltage-gated sodium channel Nav1.6, encoded by the gene SCN8A. Nav1.6 is expressed in excitatory...
2.
Wengert E, Cheng M, Liebergall S, Markwalter K, Hong Y, Arias L, et al.
bioRxiv
. 2024 Oct;
PMID: 39386579
The recurrent pathogenic variant -p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe developmental delay/intellectual disability, and infantile-onset treatment-resistant epilepsy with multiple seizure types including myoclonic...
3.
Miralles R, Boscia A, Kittur S, Vundela S, Wengert E, Patel M
bioRxiv
. 2024 Mar;
PMID: 38464208
epileptic encephalopathy (EE) is a severe epilepsy syndrome resulting from mutations in the voltage-gated sodium channel Na 1.6, encoded by the gene . Na 1.6 is expressed in both excitatory...
4.
Feng H, Clatot J, Kaneko K, Flores-Mendez M, Wengert E, Koutcher C, et al.
Cell Rep Med
. 2024 Jan;
5(2):101389.
PMID: 38266642
The recurrent variant KCNC1-p.Arg320His causes progressive myoclonus epilepsy (EPM) type 7, defined by progressive myoclonus, epilepsy, and ataxia, and is without effective treatment. KCNC1 encodes the voltage-gated potassium channel subunit...
5.
Kaneko K, Currin C, Goff K, Wengert E, Somarowthu A, Vogels T, et al.
Cell Rep
. 2022 Mar;
38(13):110580.
PMID: 35354025
Dravet syndrome is a neurodevelopmental disorder characterized by epilepsy, intellectual disability, and sudden death due to pathogenic variants in SCN1A with loss of function of the sodium channel subunit Nav1.1....
6.
7.
Wengert E, Wagley P, Strohm S, Reza N, Wenker I, Gaykema R, et al.
Brain Res
. 2021 Nov;
1775:147743.
PMID: 34843701
Dravet Syndrome (DS) is a severe developmental and epileptic encephalopathy typically caused by loss-of-function de novo mutations in the SCN1A gene which encodes the voltage-gated sodium channel isoform Na1.1. Decreased...
8.
Thompson J, Miralles R, Wengert E, Wagley P, Yu W, Wenker I, et al.
Epilepsia Open
. 2021 Nov;
7(2):280-292.
PMID: 34826216
Objective: SCN8A epileptic encephalopathy is caused predominantly by de novo gain-of-function mutations in the voltage-gated sodium channel Na 1.6. The disorder is characterized by early onset of seizures and developmental...
9.
Wengert E, Miralles R, Wedgwood K, Wagley P, Strohm S, Panchal P, et al.
J Neurosci
. 2021 Sep;
41(44):9257-9273.
PMID: 34544834
epileptic encephalopathy is a devastating epilepsy syndrome caused by mutant , which encodes the voltage-gated sodium channel Na1.6. To date, it is unclear if and how inhibitory interneurons, which express...
10.