Papers- Ritter Lab

Cenobamate's Efficacy for Seizure Treatment in Tuberous Sclerosis Complex

David Ritter — Sat, 21 Dec 2024 02:32:26 +0000

Gewalin Aungaroon, Alexander Cooke, David Ritter, Darcy Krueger, Paul Horn, David N Franz

Pediatric Neurology. 2024 Dec:161:201-207. doi: 10.1016/j.pediatrneurol.2024.09.023.

Cenobamate is a new medication used for focal seizures. We investigated the improvement of seizures in patients with TSC undergoing treatment with cenobamate.

https://www.pedneur.com/article/S0887-8994(24)00348-5/fulltext

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Mammalian Target of Rapamycin Inhibitor Levels Decrease Under Cenobamate Treatment

David Ritter — Sat, 21 Dec 2024 02:27:22 +0000

Lena-Luise Becker, Karen Agricola, David M. Ritter, Darcy A Krueger, David Neal Franz

Pediatric Neurology. 2024 Dec:161:73-75. doi: 10.1016/j.pediatrneurol.2024.08.009

Treatment of patients with cenobamate will lower mTOR inhibitor medication levels in patient with TSC.

https://www.pedneur.com/article/S0887-8994(24)00300-X/fulltext

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Impact of Race in Missed Appointments in Pediatric Neurology Resident Clinic at a Large Tertiary Medical Center

David Ritter — Sat, 03 Aug 2024 18:13:31 +0000

Lauren C. Albor LC, Paul S. Horn, Charu Venkatesan, David M. Ritter

Journal of Child Neurology. 2024. doi:10.1177/08830738241264432

Study looking at the impact of socioeconomic factors and race in missed appointments. This work shows that racial factors supersede socioeconomic factors and suggests that child neurology care is impacted by systemic racism.

https://journals.sagepub.com/doi/10.1177/08830738241264432

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Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results

David Ritter — Sat, 03 Aug 2024 18:09:51 +0000

Jamie K. Capal, David M. Ritter, David Neal Franz, Molly Griffith, Kristn Currans, Bridget Kent, E. Martina Bebin, Hope Northrup, Mary Kay Koenig, Tomoyuki Mizuno, Alexander A. Vinks, Stephanie L. Galandi, Wujuan Zhang, Kenneth D.R. Setchell, Kelly M. Kremer, Carlos M. Prada, Hansel M. Greiner, Katherine Holland-Bouley, Paul S. Horn, Darcy A. Krueger

Ann Child Neurol Soc, 2: 106-119. doi.org/10.1002/cns3.20070

Phase 1 study of preventative sirolimus treatment in tuberous sclerosis complex. Results show that early treatment with sirolimus is safe and the preliminary efficacy is reassuring.

https://onlinelibrary.wiley.com/doi/10.1002/cns3.20070

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Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

David Ritter — Thu, 21 Mar 2024 11:34:07 +0000

Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng

Ann Clin Transl Neurol 2024 Mar 19.doi: 10.1002/acn3.52046.

A study investigating the neurologic phenotype within a consortium of sites investigating PTEN Hamartoma Tumor Syndrome.

https://onlinelibrary.wiley.com/doi/10.1002/acn3.52046

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Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex.

David Ritter — Wed, 03 Jan 2024 12:29:44 +0000

Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield & Jennifer Glass

Orphanet J Rare Dis 19, 4 (2024). https://doi.org/10.1186/s13023-023-03015-7

Provider survey showing that providers view pregnancy with TSC as higher risk than normal. However, there is a wide variety of opinions about what should be done and how to manage mTOR inhibitors during the pregnancy. We suggest the development of consensus statements from experts in the field to help guide pregnancy care.

https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-03015-7

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Estradiol- and Progesterone-Associated Changes in microRNA-Induced Silencing and Reduced Antiseizure Efficacy of an Antagomir in Female Mice

David Ritter — Thu, 21 Sep 2023 11:29:36 +0000

Durgesh Tiwari, Valerine Rajathi, Jeffrey K Rymer, Lindsay N Beasley, Amanda M McGann, Alexander T Bunk, Emma V Parkins, McKenzie F Rice, Katie E Smith, David M Ritter, Angela R White, Carolyn M Doerning, Christina Gross

eNeuro. 2023 Jul 24;10(7):ENEURO.0047-22.2023. doi: 10.1523/ENEURO.0047-22.2023. Print 2023 Jul.

Laboratory investigation showing that estradiol and progesterone alter microRNAs involved in the regulation of seizures. Specifically microRNAs regulating Kv4.2 channel function are controlled by hormonal changes. This has impact on the interpretation of animal models of seizures, treatment possibilities, and catamenial epilepsy.

https://www.eneuro.org/content/10/7/ENEURO.0047-22.2023

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Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex

David Ritter — Mon, 01 May 2023 02:43:23 +0000

David M Ritter, Bailey K Fessler, Daniel Ebrahimi-Fakhari, Jun Wei, David N Franz, Darcy A Krueger, Andrew T Trout, Alexander J Towbin

Orphanet J Rare Dis. 2022 Mar 15;17(1):124.doi: 10.1186/s13023-022-02277-x.

MRI and CT findings in patients with TSC of all ages. Some findings were increased over typical population findings. Most increased with age, however renal cysts decreased with age. Interestingly, I large percentage of males who had CT images also had TSC-related lung disease findings.

https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02277-x

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Diabetes in Individuals With Tuberous Sclerosis Complex Treated With mTOR Inhibitors

David Ritter — Mon, 01 May 2023 02:38:46 +0000

Karen Agricola, Gabrielle Stires, Darcy A Krueger, Jamie K Capal, David N Franz, David M Ritter

Pediatr Neurol. 2021 Jul;120:7-10. doi: 10.1016/j.pediatrneurol.2021.03.007. Epub 2021 Apr 2.

Case series of patients who developed diabetes after mTOR inhibitors. Importantly, it is not a high number of patients and those who developed it often had other medication-related risk factors. Nearly all patients can be treated without stopping mTOR inhibitors.

https://www.sciencedirect.com/science/article/pii/S0887899421000539

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Acute Ataxia and Paresthesia in a Healthy 5-year-old Girl

David Ritter — Mon, 01 May 2023 02:35:41 +0000

Richard J Taylor, David M Ritter, Maria E Frazier, Matthew W Zackoff

Pediatr Rev. 2021 Jun;42(6):329-331.doi: 10.1542/pir.2020-0007.

Case presentation of a young girl with tick paralysis.

https://publications.aap.org/pediatricsinreview/article/42/6/329/179834/Acute-Ataxia-and-Paresthesia-in-a-Healthy-5-year

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Treatment of SCN4A-induced myotonic crisis.

David Ritter — Mon, 01 May 2023 02:33:04 +0000

David M. Ritter, Ciuxia Tian, and Eileen Broomall

Muscle Nerve. 2021 Jun;63(6):E59-E61.doi: 10.1002/mus.27237.Epub 2021 Mar 31.

Case report of the presentation and treatment of a patient with severe SCN4a-induced crisis.

https://onlinelibrary.wiley.com/doi/10.1002/mus.27237

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In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy

David Ritter — Mon, 01 May 2023 02:29:58 +0000

David M. Ritter, Paul S. Horn, and Katherine D. Holland

Pediatr Neurol. 2021 May;118:48-54.doi: 10.1016/j.pediatrneurol.2021.01.006.Epub 2021 Jan 27.

Study looking at models to predict KCNQ channel pathogenicity and their accuracy. We determined a modified algorithm that was both specific and sensitive for KCNQ related epilepsy.

https://www.sciencedirect.com/science/article/pii/S0887899421000072

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Genetic Testing in Epilepsy

David Ritter — Mon, 01 May 2023 02:26:56 +0000

David M. Ritter and Katherine Holland

Semin Neurol. 2020 Dec;40(6):730-738. doi: 10.1055/s-0040-1719070. Epub 2020 Nov 11.

Review article on the role of genetic testing in epilepsy patients. Additionally, a work flow for deciding on testing was proposed.

https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0040-1719070

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A-Type KV Channels in Dorsal Root Ganglion Neurons: Diversity, Function, and Dysfunction

David Ritter — Mon, 01 May 2023 02:23:35 +0000

Benjamin M Zemel, David M Ritter, Manuel Covarrubias, Tanziyah Muqeem

Front Mol Neurosci. 2018 Aug 6;11:253. doi: 10.3389/fnmol.2018.00253. eCollection 2018.

Review article describing the roles of various “A-type” potassium channels in the dorsal root ganglion including Kv1.4, Kv3.4, Kv4.2 and Kv4.3 channels.

https://www.frontiersin.org/articles/10.3389/fnmol.2018.00253/full

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Modulation of Kv3.4 channel N-type inactivation by protein kinase C shapes the action potential in dorsal root ganglion neurons

David Ritter — Tue, 28 May 2019 15:13:10 +0000

David M Ritter, Cojen Ho, Michael E O'Leary, Manuel Covarrubias

J Physiol. 2012 Jan 1;590(1):145-61. doi: 10.1113/jphysiol.2011.218560. Epub 2011 Nov 7.

Work shows that’s a specific potassium channel, Kv3.4, is important for regulating the action potential (electrical signals) in pain-sensing neurons.

https://physoc.onlinelibrary.wiley.com/doi/full/10.1113/jphysiol.2011.218560

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Modeling-independent elucidation of inactivation pathways in recombinant and native A-type Kv channels

David Ritter — Tue, 28 May 2019 15:12:55 +0000

Jeffrey D Fineberg, David M Ritter, Manuel Covarrubias

J Gen Physiol. 2012 Nov;140(5):513-27. doi: 10.1085/jgp.201210869.

A study showing that experimentally different ion channels inactivate via different mechanisms. The role of these inactivation mechanisms was then determined in an model neuron.

https://rupress.org/jgp/article/140/5/513/43084/Modeling-independent-elucidation-of-inactivation

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Dysregulation of Kv3.4 channels in dorsal root ganglia following spinal cord injury

David Ritter — Tue, 28 May 2019 15:12:09 +0000

David M Ritter, Benjamin M Zemel, Tamara J Hala, Michael E O'Leary, Angelo C Lepore, Manuel Covarrubias

J Neurosci. 2015 Jan 21;35(3):1260-73. doi: 10.1523/JNEUROSCI.1594-14.2015.

Here we showed that different phenotypes of Kv3.4 channel inactivation correlate with variable states following spinal cord injury. We propose that these different channel phenotypes underlie chronic pain responses.

https://www.jneurosci.org/content/35/3/1260.long

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Kv3.4 channel function and dysfunction in nociceptors

David Ritter — Tue, 28 May 2019 15:11:49 +0000

David M Ritter, Benjamin M Zemel, Angelo C Lepore, Manuel Covarrubias

Channels (Austin). 2015;9(4):209-17.doi:10.1080/19336950.2015.1056949.Epub 2015 Jun 3.

Kv3.4 channels are expressed in nociceptors regardless of species and sex. Additionally, their role in electrical signals can be modeled accurately and shown with toxins.

https://www.tandfonline.com/doi/full/10.1080/19336950.2015.1056949

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