title: Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital.
abstract: Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications. This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. Many of the subjects in this study were on valproic acid therapy prior to their initial evaluation and exhibited increased tremor, decreased balance, and/or regression of motor skills, which resolved after tapering off of this medication. Newer antiepileptic drugs such as levetiracetam, lamotrigine, and clobazam, and to a lesser extent topiramate, appeared to be as effective - if not more so - as valproic acid and clonazepam while offering more favorable side effect profiles. The low glycemic index treatment also provided effective seizure control with minimal side effects. The majority of subjects remained on combination therapy with levetiracetam, lamotrigine, and clobazam being the most commonly used medications, indicating a changing trend when compared with prior studies.
authors.affiliation: Angelman Syndrome Clinic, Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.
authors.forename: Elias A
authors.initials: EA
authors.lastname: Shaaya
authors.affiliation: Angelman Syndrome Clinic, Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.
authors.forename: Olivia R
authors.initials: OR
authors.lastname: Grocott
authors.affiliation: Angelman Syndrome Clinic, Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.
authors.forename: Olivia
authors.initials: O
authors.lastname: Laing
authors.affiliation: Angelman Syndrome Clinic, Department of Neurology, Massachusetts General Hospital, Boston, MA, United States. Electronic address: rthibert@mgh.harvard.edu.
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Thibert
mesh_terms: D000293:Adolescent; D000328:Adult; D000554:Ambulatory Care Facilities; D017204:Angelman Syndrome / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology*; D000927:Anticonvulsants / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006769:Hospitals, General / Q000379:methods*; D006801:Humans; D008297:Male; D008404:Massachusetts / Q000453:epidemiology; D012189:Retrospective Studies; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000927:Anticonvulsants
keywords: Angelman syndrome; Antiepileptic drug; Epilepsy; LGIT; Seizures