Access Resources

We have compiled resources about SLC13A5 Epilepsy and related topics so you have information and support at your fingertips. Be sure to check out our blog, our monthly electronic newsletter, and ways to Get Involved. Looking for a fun activity with your family? Check out our Coloring Pages.

Educational Videos, Etc.

TESS offers a variety of educational webinars and videos to help caregivers and families navigate a SLC13A5 Epilepsy diagnosis. Listen at your convenience to practical advice on diagnosis, clinical care, current research, caregiver challenges, and more.

Intro to TESS Research Foundation

What is TESS Research Foundation?

What is TESS Research Foundation? (Subtítulos en Español)

Intro to SLC13A5 Epilepsy

Introduction to SLC13A5 Genetics with Elli Brimble, MS (07/25/2020) – Ask the Expert Webinars

Webinar for SLC13A5 Families with Dr. Brenda Porter (10/05/2019) – Ask the Expert Webinars

Frequently Asked Questions (FAQs)

What is a Seizure? – FAQ Interviews with Maggie – TESS Research Foundation

What is Speech Therapy? – FAQ Interviews with Maggie – TESS Research Foundation

What is Physical Therapy? – FAQ Interviews with Maggie – TESS Research Foundation

What is Occupational Therapy? – FAQ Interviews with Maggie – TESS Research Foundation

What do SLC13A5 Scientists do? – FAQ Interviews with Maggie – TESS Research Foundation

What do SLC13A5 Neurologists do? – FAQ Interviews with Maggie – TESS Research Foundation

What’s a Research Program Manager? – FAQ Interviews with Maggie – TESS Research Foundation

Life Hacks and Webinars for Families

Family Planning After A Genetic Diagnosis – Alleigh Boyd, CGC (08/22/2020) – Ask the Expert Webinars

Raising a Child With SLC13A5 Deficiency (Equipment + Life Hacks + Early Years) – Nicole Windisch – SLC13A5 Deficiency Family Day 2020

Living with Seizures – Dr. Brenda Porter, MD, PhD – SLC13A5 Deficiency Family Day 2020

Toll Of Caregiver Trauma (Parts 1-3) with Eileen Devine, LCSW (February 2020)

Webinar for SLC13A5 Families with Dr. Brenda Porter (10/05/2019) – Ask the Expert Webinars

SLC13A5 Family Stories

One family’s journey to an SLC13A5 Deficiency diagnosis

What No Parent Wants to Hear Davis Family Vlog

5 Month Update!! Davis Family Vlog

Sibling Interviews

Being a Sibling to Kids with SLC13A5 Deficiency

Matt & Meredith – SLC13A5 Sibling Interviews with Maggie

Landon & The Grover Siblings – SLC13A5 Sibling Interviews with Maggie

Kaiden & His Little Brother, Jackson – SLC13A5 Sibling Interviews with Maggie

Naillaret & Her Little Brother, Yavi – SLC13A5 Sibling Interviews with Maggie

The Davis Family – A Day in the Life of a Family Living with SLC13A5 Epilepsy

TESS Superheroes’ by Lily Nye – TESS Research Foundation

Examples of Seizures in SLC13A5 Epilepsy

Neonatal Seizure (Focal Seizure) – TESS Research Foundation

Tonic Clonic Seizure – TESS Research Foundation

Myoclonic Seizures – TESS Research Foundation

Focal Onset Impaired Awareness Seizure (Complex Partial Seizure) – TESS Research Foundation

SLC13A5 Conferences

Research Conferences

2018 Talks

1. Family Thank You’s – SLC13A5 Research Roundtable 2018

2. SLC13A5 Clinical Spectrum with Dr. Brenda Porter – SLC13A5 Research Roundtable 2018

3. Dr. Brenda Porter’s Research Overview – SLC13A5 Research Roundtable 2018

4. Dr. Vadivel Ganapathy’s Research Overview – SLC13A5 Research Roundtable 2018

5. Dr. Anne Murphy’s Research Overview – SLC13A5 Research Roundtable 2018

6. Dr. Toshihiko Ezashi’s Research Overview – SLC13A5 Research Roundtable 2018

7. Dr. Da-Neng Wang’s Research Overview – SLC13A5 Research Roundtable 2018

8. Dr. Sarah Elsea’s Research Overview – SLC13A5 Research Roundtable 2018

9. Dr. Andreas Birkenfeld’s Research Overview – SLC13A5 Research Roundtable 2018

10. Dr. Rachel Bailey’s Research Overview – SLC13A5 Research Roundtable 2018

2020 Talks (Public)

1. Welcome & Introduction to TESS Research Foundation – Kimberly Nye – Research Roundtable 2020

2. SLC13A5 Clinical Overview – ​​Brenda E. Porter – Research Roundtable 2020

3. SLC13A5 as a novel pharmacologic target for metformin and its relevance to the antidiabetic efficacy of the drug – Vadivel Ganapathy – Research Roundtable 2020

4. SLC13A5 Research Overview – Matthew Bainbridge – Research Roundtable 2020

5. Classification of SLC13A5 Deficiency Mutations and Assays for Small Molecule Drug Screen – Da-Neng Wang – Research Roundtable 2020

6. Tools to study SLC13A5 basic science – Grit Zahn – Research Roundtable 2020

7. Patient-derived iPSCs – Adriana Beltran – Research Roundtable 2020

8. Patient-derived iPSCs and NPCs – Toshihiko Ezashi – Research Roundtable 2020

9. Gene Therapy in Clinical Trials – Berge Minassian – Research Roundtable 2020

Family Day Conferences

2020 Talks

1. Raising a Child With SLC13A5 Deficiency (Equipment + Life Hacks + Early Years) – Nicole Windisch – SLC13A5 Deficiency Family Day 2020

2. Living with Seizures – Dr. Brenda Porter, MD, PhD – SLC13A5 Deficiency Family Day 2020

3. What is a Natural History Study? with Dr. Kim Goodspeed, MD – SLC13A5 Deficiency Family Day 2020

Founder’s Presentations

TESS Research Foundation Founder, Kim Nye, is a thought leader in rare gene therapy development. She is frequently invited to give both public and private presentations to the government, nonprofits, and industry on rare disease and epilepsy diagnosis, starting a nonprofit, clinical trial design, and life as a caregiver to two children with disabilities.  If you are interested in having Kim speak to your team, you can email her: kim@tessfoundation.org.

2022

1. Impact of COVID on Clinical Trials, Patient/Caregiver Perspective – 2022 Epilepsy Foundation Pipeline Conference (06/05/2022-06/06/2022)

2021

1. Genetics: Everything You Need To Know – Epilepsy Foundation’s Facebook Live (06/30/2021)

2. Epilepsy Drug Development: Clinical Trials – A Patient’s Perspective – CURE Epilepsy’s Seizing Life Podcast (01/20/2021)

3. Modeling Human Epilepsies: Why Epilepsy Research Matters, A Personal Story during the Curing the Epilepsies 2021 – National Institute of Health (NIH) & National Institute of Neurological Disorders and Stroke (NINDS) (01/04/2021-01/06/2021)

2020

1. SLC13A5 – TESS Research Foundation with Kim Nye – EPISODE 057 – ONCE UPON A GENE Podcast (11/19/2020)

https://effieparks.com/podcast/episode-057-slc13a5-tess-research-foundation-kim-nye

2. Gene Therapy: A Patient Advocate’s Perspective – Episode #306 – RARECAST The Global Genes Podcast (October 2020)

https://globalgenes.org/rare-cast/episode-306/

3. Genes and Epilepsy: Understanding The Basics – Epilepsy Foundation 2020 Virtual Community Day (08/29/2020)

Pre-2019

1. A Journey To Diagnosis: A Case Study in Epilepsy Genetics (03/05/2018)

2. A diagnostic odyssey: Why early and accurate genetic testing in epilepsy is so important – Dr. Brenda Porter, MD, PhD and Kim Nye (10/29/2017)

https://register.gotowebinar.com/register/1016869421129344515

3. Kim Nye Interview – Peninsula Television/Pen Voice (01/27/2016)