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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 06/2018, Volume 115, Issue 24, p. E5516
De novo variants in SCN2A developmental and epileptic encephalopathy (DEE) show distinctive genotype–phenotype correlations. The two most recurrent SCN2A... 
Seizing | Neonates | Phenotypes | Epilepsy | Action potential | Infants | Spasms | Genotype & phenotype | Convulsions & seizures | Correlation analysis | Encephalopathy | Ion channels | Modelling | Diagnostic systems | Mathematical models | Mutation | Neurological disorders | Genotypes | Seizures
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2013, Volume 45, Issue 7, pp. 825 - 830
Journal Article
Case Reports in Oncology, ISSN 1662-6575, 10/2016, Volume 9, Issue 3, pp. 568 - 573
Introduction: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most... 
Case Report | Carboplatin | Spinal cord tumor | Neurofibromatosis type 1 | Pilomyxoid astrocytoma | Astrocytoma
Journal Article
by Allen, Andrew S and Berkovic, Samuel F and Cossette, Patrick and Delanty, Norman and Dlugos, Dennis and Eichler, Evan E and Epstein, Michael P and Glauser, Tracy and Goldstein, David B and Han, Yujun and Heinzen, Erin L and Hitomi, Yuki and Howell, Katherine B and Johnson, Michael R and Kuzniecky, Ruben and Lowenstein, Daniel H and Lu, Yi-Fan and Madou, Maura R. Z and Marson, Anthony G and Mefford, Heather C and Esmaeeli Nieh, Sahar and O'Brien, Terence J and Ottman, Ruth and Petrovski, Slavé and Poduri, Annapurna and Ruzzo, Elizabeth K and Scheffer, Ingrid E and Sherr, Elliott H and Yuskaitis, Christopher J and Abou-Khalil, Bassel and Alldredge, Brian K and Bautista, Jocelyn F and Boro, Alex and Cascino, Gregory D and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glynn, Simon and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Paolicchi, Juliann M and Parent, Jack M and Park, Kristen and Shellhaas, Renée A and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joseph and Lin Thio, Liu and Venkat, Anu and Vining, Eileen P. G and Von Allmen, Gretchen K and Weisenberg, Judith L and Widdess-Walsh, Peter and Winawer, Melodie R and Epi4K Consortium and Epilepsy Phenome/Genome Project
Nature, ISSN 0028-0836, 2013, Volume 501, Issue 7466, pp. 217 - 221
Journal Article
Journal Article
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 04/2019, Volume 294, Issue 17, pp. 7085 - 7097
The cellular prion protein (PrP ) is a key neuronal receptor for β-amyloid oligomers (AβO), mediating their neurotoxicity, which contributes to the... 
metallopeptidase ADAM10 | induced pluripotent stem cell (iPS cell) (iPSC) | neurodegenerative disease | cell surface protein | Alzheimer disease | Neurobiology | prion | amyloid-beta (AB) | proteolytic shedding | oxidative stress
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2012, Volume 122, Issue 9, pp. 3227 - 3238
Journal Article
Journal Article
Journal of Clinical Neuroscience, ISSN 0967-5868, 2010, Volume 17, Issue 12, pp. 1632 - 1633
Journal Article
Epilepsia, ISSN 0013-9580, 01/2012, Volume 53, Issue 1, pp. 101 - 110