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1. Full Text De novo mutations in epileptic encephalopathies
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 (London), ISSN 0028-0836, 2013, Volume 501, Issue 7466, pp. 217 - 221
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic Predisposition to Disease - genetics | Spasms, Infantile - physiopathology | Humans | N-Acetylglucosaminyltransferases - genetics | Probability | Infant | Male | Mutation Rate | Fragile X Mental Retardation Protein - metabolism | Spasms, Infantile - genetics | Mutation - genetics | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Exome - genetics | Lennox Gastaut Syndrome | Receptors, GABA-A - genetics | Female | Child Development Disorders, Pervasive | Cohort Studies | Genetic aspects | Research | Gene mutations | Encephalopathy | Epilepsy | Families & family life | Autism | Genomes | Mutation | Patients | Genes | Index Medicus
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2. Full Text Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum
by Edwards, Timothy J and Fenlon, Laura R and Dean, Ryan J and Bunt, Jens and Sherr, Elliott H and Richards, Linda J and IRC5 Consortium
NeuroImage (Orlando, Fla.), ISSN 1053-8119, 08/2020, Volume 217, pp. 116868 - 116868
Cortical development | Brain plasticity | Neurodevelopmental disorders | Corpus callosum dysgenesis | Corpus callosum | Structural connectome | Neuroimaging | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Agenesis of Corpus Callosum - diagnostic imaging | Mice, Inbred C57BL | Electroporation | Connectome | Mice, Neurologic Mutants | Diffusion Tensor Imaging | Pregnancy | Magnetic Resonance Imaging | Animals | Image Processing, Computer-Assisted | Neuronal Plasticity | Neural Pathways - diagnostic imaging | Female | Mice | Disease Models, Animal | Brain | Anisotropy | Neural networks | Cognitive ability | Cerebral hemispheres | Interhemispheric transfer | Index Medicus
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3. Full Text Dual-Mode Modulation of Smad Signaling by Smad-Interacting Protein Sip1 Is Required for Myelination in the Central Nervous System
by Weng, Qinjie and Chen, Ying and Wang, Haibo and Xu, Xiaomei and Yang, Bo and He, Qiaojun and Shou, Weinian and Chen, Yan and Higashi, Yujiro and van den Berghe, Veronique and Seuntjens, Eve and Kernie, Steven G and Bukshpun, Polina and Sherr, Elliott H and Huylebroeck, Danny and Lu, Q. Richard
Neuron (Cambridge, Mass.), ISSN 0896-6273, 02/2012, Volume 73, Issue 4, pp. 713 - 728
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Central Nervous System - ultrastructure | Microcephaly - genetics | Oligonucleotide Array Sequence Analysis | Embryo, Mammalian | Homeodomain Proteins - metabolism | Humans | Nerve Tissue Proteins - deficiency | Caspase 3 - metabolism | Ki-67 Antigen - metabolism | Gene Expression Profiling | Green Fluorescent Proteins - genetics | RNA, Messenger - metabolism | Zinc Finger E-box Binding Homeobox 2 | Central Nervous System - physiology | Bone Morphogenetic Proteins - metabolism | Basic Helix-Loop-Helix Transcription Factors - metabolism | Facies | Repressor Proteins - metabolism | Smad7 Protein - metabolism | Animals, Newborn | Basic Helix-Loop-Helix Transcription Factors - genetics | Receptor, Platelet-Derived Growth Factor alpha - metabolism | Hirschsprung Disease - pathology | Intellectual Disability - pathology | Models, Molecular | Smad Proteins - genetics | Oligodendrocyte Transcription Factor 2 | Signal Transduction - genetics | Mice, Knockout | Central Nervous System - cytology | Mice | Optic Nerve - metabolism | Receptor-Interacting Protein Serine-Threonine Kinases - metabolism | Oligodendroglia - metabolism | Immunoprecipitation | Age Factors | Hirschsprung Disease - genetics | Gene Expression Regulation, Developmental - genetics | Intellectual Disability - genetics | Myelin Sheath - metabolism | Cell Differentiation - genetics | Transfection | Microcephaly - pathology | Optic Nerve - embryology | Smad7 Protein - genetics | Optic Nerve - growth & development | Microscopy, Electron, Transmission | Cells, Cultured | Nerve Tissue Proteins - genetics | Organogenesis | Nerve Tissue Proteins - metabolism | Animals | Signal Transduction - physiology | Smad Proteins - metabolism | Medical colleges | Neurons | Central nervous system | Bone morphogenetic proteins | Universities and colleges | DNA binding proteins | Proteins | Multiple sclerosis | Transcription factors | Rodents | Nervous system | Genomes | Kinases | Gene expression | Index Medicus | Antagonism
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4. Full Text Epileptic Encephalopathies: New Genes and New Pathways
by Esmaeeli Nieh, Sahar and Sherr, Elliott H
Neurotherapeutics, ISSN 1933-7213, 10/2014, Volume 11, Issue 4, pp. 796 - 806
Neurology | Neurosciences | Infantile spasms | Biomedicine | Treatment | Neurobiology | Dravet syndrome | Lennox–Gastaut syndrome | Epileptic encephalopathies | Genetics | Neurosurgery | Pharmacology & Pharmacy | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Lennox Gastaut Syndrome - diagnosis | Landau-Kleffner Syndrome - therapy | Brain - physiopathology | Humans | Infant | Spasms, Infantile - genetics | Landau-Kleffner Syndrome - genetics | Sequence Analysis, DNA | Lennox Gastaut Syndrome - genetics | Spasms, Infantile - therapy | Epilepsy - diagnosis | Landau-Kleffner Syndrome - diagnosis | Epilepsies, Myoclonic - diagnosis | Lennox Gastaut Syndrome - therapy | Epilepsy - genetics | Epilepsies, Myoclonic - therapy | Spasms, Infantile - diagnosis | Epilepsy - therapy | Infant, Newborn | Epilepsies, Myoclonic - genetics | Electroencephalography | Analysis | Genes | Epilepsy | Genomics | Index Medicus | Review
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5. Full Text Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
by Edwards, Timothy J and Sherr, Elliott H and Barkovich, A. James and Richards, Linda J
Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 6, pp. 1579 - 1613
neurogenesis | midline patterning | corpus callosum | axon guidance | neuronal specification | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes | Radiodiagnosis. Nmr imagery. Nmr spectrometry | Investigative techniques, diagnostic techniques (general aspects) | Biological and medical sciences | Nervous system | Medical sciences | Nervous system (semeiology, syndromes) | Genetic Predisposition to Disease - genetics | Animals | Agenesis of Corpus Callosum - genetics | Corpus Callosum - pathology | Humans | Agenesis of Corpus Callosum - physiopathology | Corpus Callosum - growth & development | Mutation - genetics | Disease Models, Animal | Index Medicus | Abridged Index Medicus | Review
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