View Item 

Show simple item record

Somatic Depdc5 deletion recapitulates electroclinical features of human focal cortical dysplasia type IIA
dc.contributor.authorHu, Shuntong
dc.contributor.authorKnowlton, Robert C.
dc.contributor.authorWatson, Brendon O.
dc.contributor.authorGlanowska, Katarzyna M.
dc.contributor.authorMurphy, Geoffrey G.
dc.contributor.authorParent, Jack M.
dc.contributor.authorWang, Yu
dc.date.accessioned2018-09-04T20:08:28Z
dc.date.available2019-09-04T20:15:38Zen
dc.date.issued2018-07
dc.identifier.citationHu, Shuntong; Knowlton, Robert C.; Watson, Brendon O.; Glanowska, Katarzyna M.; Murphy, Geoffrey G.; Parent, Jack M.; Wang, Yu (2018). "Somatic Depdc5 deletion recapitulates electroclinical features of human focal cortical dysplasia type IIA." Annals of Neurology 84(1): 140-146.
dc.identifier.issn0364-5134
dc.identifier.issn1531-8249
dc.identifier.urihttps://hdl.handle.net/2027.42/145530
dc.publisherWiley Periodicals, Inc.
dc.titleSomatic Depdc5 deletion recapitulates electroclinical features of human focal cortical dysplasia type IIA
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelPsychiatry
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/145530/1/ana25272_am.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/145530/2/ana25272.pdf
dc.identifier.doi10.1002/ana.25272
dc.identifier.sourceAnnals of Neurology
dc.identifier.citedreferenceWatson BO, Levenstein D, Greene JP, et al. Network homeostasis and state dynamics of neocortical sleep. Neuron 2016; 90: 839 – 852.
dc.identifier.citedreferenceBecker AJ, Beck H. New developments in understanding focal cortical malformations. Curr Opin Neurol 2018; 31: 151 – 155.
dc.identifier.citedreferenceQuirk JA, Kendall B, Kingsley DP, et al. EEG features of cortical dysplasia in children. Neuropediatrics 1993; 24: 193 – 199.
dc.identifier.citedreferenceGrinenko O, Li J, Mosher JC, et al. A fingerprint of the epileptogenic zone in human epilepsies. Brain 2018; 141: 117 – 131.
dc.identifier.citedreferenceLim JS, Gopalappa R, Kim SH, et al. Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia. Am J Hum Genet 2017; 100: 454 – 472.
dc.identifier.citedreferenceD’Gama AM, Woodworth MB, Hossain AA, et al. Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias. Cell Rep 2017; 21: 3754 – 3766.
dc.identifier.citedreferenceMarsan E, Baulac S. Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy. Neuropathol Appl Neurobiol 2018; 44: 6 – 17.
dc.identifier.citedreferenceBar‐Peled L, Chantranupong L, Cherniack AD, et al. A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 2013; 340: 1100 – 1106.
dc.identifier.citedreferenceYuskaitis CJ, Jones BM, Wolfson RL, et al., A mouse model of DEPDC5‐related epilepsy: neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis 2018; 111: 91 – 101.
dc.identifier.citedreferenceWang Y, Ji T, Nelson AD, et al. Critical roles of αII spectrin in brain development and epileptic encephalopathy. JClin Invest 2018; 128: 760 – 773.
dc.identifier.citedreferencePollen AA, Nowakowski TJ, Chen J, et al. Molecular identity of human outer radial glia during cortical development. Cell 2015; 163: 55 – 67.
dc.identifier.citedreferenceKorn MJ, Mandle QJ, Parent JM. Conditional disabled‐1 deletion in mice alters hippocampal neurogenesis and reduces seizure threshold. Front Neurosci 2016; 10: 63.
dc.identifier.citedreferenceKane N, Acharya J, Benickzy S, et al. A revised glossary of terms most commonly used by clinical electroencephalographers and updated proposal for the report format of the EEG findings. Revision 2017. Clin Neurophysiol Pract 2017; 2: 170 – 185.
dc.identifier.citedreferenceSchwartz TH. Cortical dyplasia: complete resection correlates with outcome … but, complete resection of what? Epilepsy Curr 2009; 9: 100 – 102.
dc.identifier.citedreferenceChen F, Rosiene J, Che A, et al. Tracking and transforming neocortical progenitors by CRISPR/Cas9 gene targeting and piggyBac transposase lineage labeling. Development 2015; 142: 3601 – 3611.
dc.identifier.citedreferenceCepeda C, André VM, Vinters HV, et al. Are cytomegalic neurons and balloon cells generators of epileptic activity in pediatric cortical dysplasia? Epilepsia 2005; 46 ( suppl 5 ): 82 – 88.
dc.identifier.citedreferenceCalcagnotto ME, Paredes MF, Tihan T, et al. Dysfunction of synaptic inhibition in epilepsy associated with focal cortical dysplasia. JNeurosci 2005; 25: 9649 – 9657.
dc.identifier.citedreferenceHu JS, Vogt D, Sandberg M, Rubenstein JL. Cortical interneuron development: a tale of time and space. Development 2017; 144: 3867 – 3878.
dc.identifier.citedreferenceCarvill GL, Crompton DE, Regan BM, et al. Epileptic spasms are a feature of DEPDC5 mTORopathy. Neurol Genet 2015; 1: e17.
dc.identifier.citedreferenceBlumcke I, Spreafico R, Haaker G, et al. Histopathological findings in brain tissue obtained during epilepsy surgery. N Engl J Med 2017; 377: 1648 – 1656.
dc.identifier.citedreferenceBlümcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc task force of the ILAE Diagnostic Methods Commission. Epilepsia 2011; 52: 158 – 174.
dc.identifier.citedreferenceIffland PH 2nd, Crino PB. Focal cortical dysplasia: gene mutations, cell signaling, and therapeutic implications. Annu Rev Pathol 2017; 12: 547 – 571.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Name:
ana25272_am.pdf
Size:
317.5KB
Format:
PDF
View/Open
Name:
ana25272.pdf
Size:
5.817MB
Format:
PDF
View/Open

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.