Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry

Keyphrases

• Epilepsy 100%
• Patient Registry 100%
• COL4A1 100%
• COL4A2 100%
• Gould Syndrome 100%
• International Registry 25%
• Infantile Spasms 25%
• Mean Standard Deviation 8%
• Clinical Features 8%
• Severe Manifestations 8%
• Family Members 8%
• Seizure 8%
• Social Media 8%
• Rare Diseases 8%
• Patient Demographics 8%
• Caregivers 8%
• Institutional Review Board 8%
• Developmental Delay 8%
• Research Electronic Data Capture (REDCap) 8%
• Genetic Screening 8%
• Descriptive Statistics 8%
• Living with 8%
• Clinical Care 8%
• Pediatric Neurologist 8%
• Cerebral Palsy 8%
• Capture Tool 8%
• Constipation 8%
• Affected People 8%
• Electronic Data Capture 8%
• Education Material 8%
• Stroke Recognition 8%
• Feeding Tube 8%
• De-identified Data 8%
• Resource Access 8%
• Patient Advocacy Groups 8%
• Stroke Education 8%
• IBM SPSS 8%
• Deviation Frequency 8%
• Challenges Faced 8%
• Child Caregivers 8%
• Chief Concern 8%
• Screening Panel 8%

Medicine and Dentistry

• Apoplexy 100%
• Epilepsy 100%
• Patient Registry 100%
• Infantile Spasm 75%
• Education 50%
• Spastic Diplegia 25%
• Clinical Feature 25%
• Epileptic Seizure 25%
• Pediatrics 25%
• Clinician 25%
• Patient Referral 25%
• Awareness 25%
• Rare Disease 25%
• Patient Population 25%
• Genetic Screening 25%
• Social Media 25%
• Developmental Delay 25%
• Patient Advocacy 25%
• Constipation 25%
• Diseases 25%