Epilepsy as a Presenting Feature of Batten Disease - Webinar - Ambry Genetics

Explore epilepsy as a presenting feature of Batten disease in this informative 58-minute webinar presented by Ambry Genetics. Gain insights from doctors Margie Frazier and Kaleb Yohay as they delve into the history, clinical disorders, and diagnostic processes associated with this rare genetic condition. Discover the importance of early diagnosis, multidisciplinary care, and the latest research developments, including gene therapy and clinical trials. Learn about the Batten Disease Support and Research Association's initiatives, including their research grant program and focus on supporting affected families. Understand the challenges faced by Batten siblings and the role of genetic testing in diagnosis. Engage with a comprehensive overview of this complex neurological disorder, from its initial epilepsy symptoms to the progressive vision impairment and developmental plateauing characteristic of the disease.

Introduction
History
Clinical Disorders
Epilepsy
Epilepsy as a Presenting Symptom
Developmental Plateauing
Progressive Vision Impairment
Seizures
Diagnosis
Multidisciplinary Care
Family Trauma Loss Framework
Research Grant Program
Product Projects
Diagnostic Footprint
Focus on Early Diagnosis
Family Photos
Center of Excellence
Batten Siblings
Lance Johnston
Research Team
Language Delay
Clinical Trials
Gene Therapy
Treatment Trials
Upcoming Trials
Genetic Testing
QA