RENOct 16, 20202 minGet to Know Hope for Hypoxic Ischemic Encephalopathy (HIE)Get to know Hope for Hypoxic Ischemic Encephalopathy (HIE)
RENOct 16, 20203 minGet to Know PMG Awareness OrganizationGet to know Polymicrogyria (PMG) & The PMG Awareness Organization
RENOct 14, 20204 minGet to Know FamilieSCN2A FoundationAbout SCN2a Located on the long (q) arm of chromosome 2 at position 24.3 the SCN2A is sodium channel, voltage gated, type II alpha...
RENOct 14, 20204 minGet to Know Glut1 Deficiency FoundationAbout Glut1 Deficiency Glut1 Deficiency is a rare, genetic disorder that impairs brain metabolism. Glucose isn’t properly transported...
RENOct 4, 20205 minGet To Know The International Foundation for CDKL5 ResearchAbout CDKL5 CDKL5 deficiency disorder (CDD) is a rare developmental epileptic encephalopathy (DEE) caused by mutations in the CDKL5 gene....
RENOct 4, 20205 minGet To Know Ring14 USAAbout Ring14 Ring14 USA supports all neurodevelopmental anomalies on the 14th chromosome, in particular, Ring Chromosome 14 Syndrome....
RENOct 4, 20202 minGet To Know the Angelman Syndrome FoundationAbout Angelman Syndrome (AS) Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000...
RENAug 26, 20202 minGet To Know Kathleen Farrell, MB BCh, BAOWhat is Your Role I am the Senior Director of the Epilepsy Learning Healthcare System (ELHS) as part of the National Office team of the...
RENAug 26, 20205 minGet To Know The Cute Syndrome Foundation (SCN8A Epilepsy)About SCN8A SCN8A Epilepsy is a rare developmental epileptic encephalopathy associated with mutations in the gene SCN8A. The first known...
RENJul 31, 20203 minGet To Know SCN2A AUSTRALIAAbout SCN2A SCN2A-related disorders are caused by pathogenic variants in the SCN2A gene on chromosome 2. The SCN2A gene encodes the...
RENJun 30, 20201 minLooking for Data for Rare Epilepsies?Attention Patients, Advocates & Researchers - Rare Epilepsy Data