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

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

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

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

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

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

MEREDITH ROSE, DAVID RITTER, NISHANT GUPTA, LEANDRA TOLUSSO, PAUL HORN, EMILY WAKEFIELD & JENNIFER GLASS

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

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

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

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

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

KAREN AGRICOLA, GABRIELLE STIRES, DARCY A KRUEGER, JAMIE K CAPAL, DAVID N FRANZ, DAVID M RITTER

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

RICHARD J TAYLOR, DAVID M RITTER, MARIA E FRAZIER, MATTHEW W ZACKOFF

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

DAVID M. RITTER, CIUXIA TIAN, AND EILEEN BROOMALL

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

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

DAVID M. RITTER, PAUL S. HORN, AND KATHERINE D. HOLLAND

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

DAVID M. RITTER AND KATHERINE HOLLAND

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

BENJAMIN M ZEMEL, DAVID M RITTER, MANUEL COVARRUBIAS, TANZIYAH MUQEEM

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

DAVID M RITTER, COJEN HO, MICHAEL E O'LEARY, MANUEL COVARRUBIAS

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

Jeffrey D Fineberg, David M Ritter, Manuel Covarrubias

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

DAVID M RITTER, BENJAMIN M ZEMEL, TAMARA J HALA, MICHAEL E O'LEARY, ANGELO C LEPORE, MANUEL COVARRUBIAS

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

DAVID M RITTER, BENJAMIN M ZEMEL, ANGELO C LEPORE, MANUEL COVARRUBIAS

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