Highlights
- •Newer antiepileptic drugs are as effective as older drugs in Angelman syndrome
- •Newer drugs also offer a more favorable side effect profile than older drugs in Angelman syndrome.
- •The low glycemic index treatment provided effective seizure control with minimal side effects.
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.
Keywords
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References
- “Puppet” children. A report on three cases.Dev Med Child Neurol. 1965; 7: 681-683
- Angelman syndrome: mutations influence features in early childhood.Am J Med Genet A. 2011; 155A: 81-90
- Angelman and Prader–Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.Am J Med Genet. 1989; 32: 285-290
- Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.Nat Genet. 1997; 17: 75-78
- UBE3A/E6-AP mutations cause Angelman syndrome.Nat Genet. 1997; 15: 70-73
- Angelman syndrome: mimicking conditions and phenotypes.Am J Med Genet. 2001; 101: 59-64
- Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.Epilepsia. 2009; 50: 2369-2376
- 2014. If not Angelman, what is it? A review of Angelman-like syndromes.Am J Med Genet A. 2014; 165: 975-992
- Evolution of epilepsy and EEG findings in Angelman syndrome.Epilepsia. 1997; 38: 195-199
- Parental view of epilepsy in Angelman syndrome: a questionnaire study.Arch Dis Child. 1998; 79: 423-426
- Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome.Epileptic Disord. 2005; 7: 19-25
- Angelman syndrome 2005: updated consensus for diagnostic criteria.Am J Med Genet A. 2006; 140: 413-418
- 2014. Angelman syndrome in adulthood.Am J Med Genet A. 1996; 66: 356-360
- Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience.Dev Med Child Neurol. 2001; 43: 718-719
- Assessment of anticonvulsant effectiveness and safety in patients with Angelman's syndrome using an internet questionnaire.Am J Health Syst Pharm. 2003; 60: 2583-2587
- Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13.Arch Neurol. 2006; 63: 122-128
- Angelman syndrome revisited.Neurologist. 2007; 13: 305-312
- Neurogenetic disorders and treatment of associated seizures.Pharmacotherapy. 2013; 33: 330-343
- Behavioral side effects of levetiracetam in children with epilepsy: a systematic review.Seizure. 2014; 23: 685-691
- Lamotrigine therapy of epilepsy with Angelman's syndrome.Epilepsia. 2007; 48: 593-596
- GABA(A) receptor physiology and its relationship to the mechanism of action of the 1,5-benzodiazepine clobazam.CNS Drugs. 2012; 26: 229-244
- Altered GABAA receptor subunit expression and pharmacology in human Angelman syndrome cortex.Neurosci Lett. 2010; 483: 167-172
- Low glycemic index treatment for seizures in Angelman syndrome.Epilepsia. 2012; 53: 1498-1502
Article info
Publication history
Published online: May 17, 2016
Accepted:
April 18,
2016
Received in revised form:
April 13,
2016
Received:
December 14,
2015
Identification
Copyright
© 2016 Elsevier Inc. All rights reserved.
