Erickson CA, Wink LK, Baindu B, Ray B, Schaefer TL, Pedapati EV, Lahiri DK. Analysis of peripheral amyloid precursor protein in Angelman Syndrome. Am J Med Genet A. 2016 Sep;170(9):2334-7.
This is the first report of abnormalities in amyloid precursor protein (APP) levels in humans with Angelman Syndrome. The paper implicates as a target of UBE3A. This finding provides the most advanced potential peripheral biomarker in Angelman Syndrome for potential use in treatment studies to predict targeted treatment response and assess for potential normalization of APP metabolism with treatment in Angelman Syndrome.
Wink LK, Adams R, Wang Z, Klaunig JE, Plawecki MH, Posey DJ, McDougle CJ, Erickson CA. A randomized placebo-controlled pilot study of N-acetylcysteine in youth with autism spectrum disorder. Mol Autism. 2016 Apr 21; 7:26.
This is the first published study of N acetyl cysteine (NAC) in youth with autism targeting the core social impairment of the disorder. The study found that despite clear molecular engagement of NAC with oxidative species deficits associated with autism, that in short term study the NAC treatment was not associated with significant improvement in social skills.
Pedapati EV, Gilbert DL, Erickson CA, Horn PS, Shaffer RC, Wink LK, Laue CS, Wu SW. Abnormal Cortical Plasticity in Youth with Autism Spectrum Disorder: A Transcranial Magnetic Stimulation Case-Control Pilot Study. J Child Adolesc Psychopharmacol. 2016 Sep;26(7):625-31.
This is the first published report describing brain plasticity deficits in persons with autism using a novel transcranial magnetic stimulation (TMS) approach to assessing brain activity. This work hold promise for TMS as an effective measure of brain functional abnormalities in autism. As such, TMS is a potential stronger quantitative marker of brain dysregulation in autism. It may be possible to use it in the future to potentially characterize who with autism may best respond to a potential treatment, as well as to track potential response to treatment.
Wink LK, Badran I, Pedapati EV, Sorensen R, Benton SC, Johnson MC, Wissel G, Erickson CA. Clozapine for Drug-Refractory Irritability in Individuals with Developmental Disability. J Child Adolesc Psychopharmacol. 2016 Mar 17.
This is the first manuscript describing systematic use of clozapine in an inpatient setting using a novel standardized dosing paradigm. Use of clozapine in those with drug refractory irritability associated with developmental disability is novel and provides a new systematic way to reduce significant interfering behavior in this select severely impaired population.
Wink LK, Fitzpatrick S, Shaffer R, Melnyk S, Begtrup AH, Fox E, Schaefer TL, Mathieu-Frasier L, Ray B, Lahiri D, Horn PA, Erickson CA. The neurobehavioral and molecular phenotype of Angelman Syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2623-8.
This is the report describing brain-derived neurotrophic factor (BDNF) levels in persons with Angelman Syndrome. Abnormal BDNF elevations in plasma may provide a molecular reason for some of the phenotypic features noted in Angelman Syndrome while also providing a potential molecular target of treatment in the disorder.