Amy L Schneider

Amy L Schneider

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Amy L Schneider

Amy L Schneider

Publications by authors named "Amy L Schneider"

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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 Oct 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Double somatic mosaicism in a child with Dravet syndrome.

Neurol Genet 2019 Jun 19;5(3):e333. Epub 2019 Apr 19.

Division of Genetic Medicine (A.M.M., A.S.B., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Paediatrics and Child Health (C.K.), University of Otago, Wellington, New Zealand; Department of Medicine (A.L.S., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Australia; The Florey Institute and Murdoch Children's Research Institute (I.E.S.), Parkville, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Australia; and Department of Paediatrics and Child Health (L.G.S.), University of Otago, Wellington, New Zealand.

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http://dx.doi.org/10.1212/NXG.0000000000000333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481227PMC
June 2019

Sleep problems in Dravet syndrome: a modifiable comorbidity.

Dev Med Child Neurol 2018 02 7;60(2):192-198. Epub 2017 Nov 7.

Department of Medicine, Austin Health, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1111/dmcn.13601DOI Listing
February 2018

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Neurol Genet 2015 Aug 23;1(2):e17. Epub 2015 Jul 23.

Division of Genetic Medicine (G.L.C., J. Saykally, M.Z., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Epilepsy Research Centre (D.E.C., B.M.R., J.M.M., A.L.S., S.A.M., S.F.B., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia; Neurology Department (D.E.C.), Northern Health, Melbourne, Australia; Epilepsy Research Program (L.D.), School of Pharmacy and Medical Sciences, and Sansom Institute for Health Research (L.D.), University of South Australia, Adelaide, Australia; Department of Neurology (K.B.H., R.J.L., A.S.H., I.E.S.), Royal Children's Hospital, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health (K.B.H., S.M., R.J.L., A.S.H., S.A.M., I.E.S.), Melbourne, Australia; Murdoch Childrens Research Institute (K.B.H., R.J.L., A.S.H.), Melbourne, Australia; Department of Paediatrics (S.M., R.J.L., A.S.H.) and Department of Radiology (S.M.), The University of Melbourne, Melbourne, Australia; and Epilepsy Division (J. Sullivan), Department of Neurology and Pediatrics, University of California, San Francisco.

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http://dx.doi.org/10.1212/NXG.0000000000000016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807908PMC
August 2015