Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Keyphrases

• Allelic Loss 100%
• Biallelic 100%
• CACNA1B 100%
• CaV2.2 50%
• Human Neurodevelopment 25%
• Hyperkinetic Movements 25%
• Involuntary Movement 25%
• Mean Age of Death 25%
• Neurological Syndrome 25%
• Pore-forming Subunit 25%
• Postnatal Microcephaly 25%
• Respiratory Complications 25%

Biochemistry, Genetics and Molecular Biology

• Involuntary Movement 50%
• Motor Control 50%

Neuroscience

• Microcephaly 50%