Furthermore, this past month we welcomed Jordan's Guardian Angels (Jordan's Syndrome- PPP2R5D, PPP2R1A, PPP2R5C), The DESSH Foundation, and CACNA1H Alliance.

We also fielded questions regarding CAMK2 and GABRB2 and made referrals for patients recently diagnosed with Hao and CACNA1A. 

Looking ahead, we’re proud to partner with the Child Neurology Foundation to conduct a survey to understand caregivers’ experiences on their journey in child neurology. Results will be shared with advocates and health care providers, so they are better able serve families. Caregivers of children with neurologic conditions can complete the brief survey thru April 1st here.

With gratitude, 

The REN Coordinating Committee

PS REN Members save March 28th for the next Members ONLY meeting.

Mark Your Calendars.

Upcoming events for Rare Leaders and your constituents follow below. In case you missedRare Disease Day at NIH you can listen in here.Also in case you missed Everylife Foundation's Rare Diseases Week on Capitol Hill 2022 urging Congress to protect and strengthen the FDA's accelerated approval (AA) process across rare diseases - resources and recordings here. 

• 4/26-4/28 Epilepsy Foundation's 2022 Public Health Institute Virtual conference. REN Member's Only. Registration information sent separately. 

• 5/13-15 EpiCon, Empowering Persons Living with Epilepsy (Nashville, TN) here 
• 6/5-6 NEW DATE EF's 2022 Pipeline Conference (and Shark Tank) (Santa Clara, CA) here
• 6/26 NORD's Patient & Family Forum - Living Rare, Living Stronger here
• 7/4-8 XVI Workshop on Neurobiology of Epilepsy (WONOEP 2022) here
• 10/17-18 NORD Rare Summitt 2022
• 12/2-6 AES Annual Mtg (Nashville, TN) 

Any other conferences on your radar? Please share with info@rareepilepsynetwork.org. Publicize your disease focused events on: REN Google Groups list-serve. Send a message to: ren-rare-epilepsy-network@googlegroups.com (Members Only). 

Rare Disease Days - Spreading Awareness

Good Reads.

• Potassium Channel Dysfunction in Genetic Epilepsy (KCNQ2) (NW Medicine)
• Small Molecule Lends Big Hope for Brutal Seizure Disorder (Dravet) (Stanford Medicine)
• Glut1 Deficiency Syndrome: New & Emerging Insights Into a Prototypical Brain Energy Failure Disorder, (Neuromuscular Disorders) 
• Epilepsy Foundation Quarterly features story on 2 Rare disease advocates: Deavin Arnold-Hadley (Doose Syndrome) and  Luke Rosen (KiF1a. Pls 12-14 and 16-17
• ANO3, SCN1A, IL10 - the New genetics of Febrile Seizures (Beyond the Ion Channel)

• Piloting Positive Psychology Resources for Caregivers of a Child with a Genetic Developmental And Epileptic Encephalopathy (European Jour of Pediatric Neurology)
• Two NEW Global Genes Reports: 2022 Rare Health Equity Report and Next 2022. 

• Marinus Epilepsy Study Falls Victim to Omicron, Supply Chain Issues (Biospace)
• Addressing Anxiety in People with Epilepsy (ILAE. Epigraph)
• WHO Sets out Action Plan on Epilepsy and Other Neurological Disorders 2022-31 (Epilepsy Action)
• Parent-Reported Sleep Profile of Children With Early-Life Epilepsies (Pediatric Neurology)
• Some Children Die With Explanation. Genetics if Finally Giving Us Answers (Science Alert)

• Genome-wide Association Study of Febrile Seizures implicates Fever response and neuronal excitability genes (Brain)
• Geneticists Find Clues to Sudden Unexplained Child Deaths (Science)
• A Large-Scale Analysis of KCNQ2 variants - overcoming the functional bottleneck (Beyond the Ion Channel)
• Quantum Leap in Newborn Whole Genome Sequencing (Forbes)
• The IDeaS Initiative: Pilot Study to Assess the Impact of Rare Disease on Patients and Healthcare Systems. (Orphanet Jour of Rare Diseases)
• Epilepsy & Big Data (Epilepsy REsearch UK)
• Delineating the Epilepsy Phenotype of NGLY1 Deficiency (Docwire news)
• PIGN Encephalopathy: Characterizing the epileptology (Docwire news)
• Psychiatric Comorbidities in Epilepsy: Implications for Clinical Practice (Psychiatric Times)
• Genetic Testing Recommended for Undiagnosed Adults with Epilepsy (Dravet Syndrome News)
• New research could deliver a breakthrough for kids suffering from a severe form of genetic epilepsy (MMPSI/KCNT1)

A few rare related human interest stories....

• Boston Family Works Alone to Develop Treatment for Toddler with Rare Disease (Alternating Hemiplegia of childhood or AHC) (CBS 58)
• Orange County Doctor Helps Lead The Fight Against his Son's Rare Disorder (KCNT1-Related Epilepsy) (LATimes.Com)

• My Daughter's Rare Disease was a Mystery for Years. Here's How We Finally Got a Diagnosis (MERRF) (Huffpost)

News, publications, other resources to share? Contact info@rareepilepsynetwork.org. 

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Rare Epilepsy Network (REN) 

working with urgency to improve outcomes of rare epilepsy patients and families

by fostering patient-focused research and advocacy.