Alternating Hemiplegia of Childhood (AHC) is a rare and severe disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, severe often life threatening epileptic seizures, frequently severe developmental and psychiatric/psychological disabilities and other comorbidities, such as cardiac disturbances. Recent data indicate that AHC genotype is in relation to cardiac repolarization troubles and to cardiac arrhythmias. The primary hypothesis to explore is that there is an association between genotype and cardiac phenotype in AHC.
Study Type
OBSERVATIONAL
Enrollment
20
Retrospective recording of demographic information (age, sex, age at diagnosis), genetic information, cardiological information, pharmacological treatments, electrocardiogram data. All above data will be deidentified.
Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children, Hôpital Femme Mère Enfant, University Hospitals of Lyon (Hospices Civils de Lyon)
Bron, France
Measurement of QTc interval and all relevant cardiac repolarization measurements
Outcome measure: QTc interval and cardiac repolarization measurement in milliseconds.
Time frame: Day 1
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