A synaptic protein defect associated with reflex seizure disorder

Pasquale Striano¹, Peter Huppke²

Affiliations

¹ From the Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Pediatrics and Pediatric Neurology (P.H.), Georg August University, Göttingen, Germany. strianop@gmail.com.
² From the Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Pediatrics and Pediatric Neurology (P.H.), Georg August University, Göttingen, Germany.

PMID: 30541867
DOI: 10.1212/WNL.0000000000006720

Editorial

A synaptic protein defect associated with reflex seizure disorder

Pasquale Striano et al. Neurology. 2019.

. 2019 Jan 8;92(2):63-64.

doi: 10.1212/WNL.0000000000006720. Epub 2018 Dec 12.

Authors

Pasquale Striano¹, Peter Huppke²

Affiliations

¹ From the Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Pediatrics and Pediatric Neurology (P.H.), Georg August University, Göttingen, Germany. strianop@gmail.com.
² From the Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Pediatrics and Pediatric Neurology (P.H.), Georg August University, Göttingen, Germany.

PMID: 30541867
DOI: 10.1212/WNL.0000000000006720

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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.

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A synaptic protein defect associated with reflex seizure disorder

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