Myoclonic epilepsy of infancy
Synonyms: Benign myoclonic epilepsy of infancy | Benign myoclonus epilepsy of infancy
A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity can be singular or occur in a series and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Myoclonic epilepsy of infancy?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
Mickie?s Miracles
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.