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de-novo mutations (4) 4
genes (4) 4
genetics (4) 4
index medicus (4) 4
epilepsy (3) 3
epileptic encephalopathy (3) 3
humans (3) 3
anopheles (2) 2
autism (2) 2
channelopathy (2) 2
clustering of missense variants (2) 2
epilepsy - genetics (2) 2
genetic disorders (2) 2
genetic research (2) 2
genetics & heredity (2) 2
genomes (2) 2
incidental findings (2) 2
intellectual disability (2) 2
mutation (2) 2
mutation - genetics (2) 2
pathogenic grin2b mutations (2) 2
phenotype (2) 2
precision medicine (2) 2
research (2) 2
abnormalities (1) 1
analysis (1) 1
anatomy (1) 1
anesthesiology (1) 1
animals (1) 1
aphasia (1) 1
autism spectrum disorders (1) 1
bioinformatics (1) 1
biomedicine (1) 1
brain diseases - drug therapy (1) 1
brain diseases - genetics (1) 1
care and treatment (1) 1
causality (1) 1
cause intellectual disability (1) 1
channelopathies (1) 1
childhood absence epilepsy (1) 1
clinical neurology (1) 1
clinical-research (1) 1
complications and side effects (1) 1
consortia (1) 1
cortex (1) 1
data processing (1) 1
deoxyribonucleic acid--dna (1) 1
developmental delay (1) 1
disclosure - statistics & numerical data (1) 1
disease (1) 1
diseases (1) 1
encephalopathy (1) 1
epilepsy - pathology (1) 1
epilepsy - physiopathology (1) 1
epilepsy gene (1) 1
familial neonatal convulsions (1) 1
family studies (1) 1
framework (1) 1
frontal-lobe epilepsy (1) 1
gain-of-function (1) 1
gene function (1) 1
gene mapping (1) 1
genetic predisposition to disease - genetics (1) 1
genetic variation (1) 1
genetic-variation (1) 1
genomics - methods (1) 1
genomics - statistics & numerical data (1) 1
health aspects (1) 1
heterozygote (1) 1
human genome (1) 1
human physiology (1) 1
human-disease (1) 1
individuals (1) 1
informed-consent (1) 1
intellectual disabilities (1) 1
intolerance (1) 1
ion channel gene (1) 1
ion channels - genetics (1) 1
journal article (1) 1
lange-syndrome (1) 1
ligands (1) 1
long qt syndrome (1) 1
magnetic resonance imaging (1) 1
medical colleges (1) 1
medical genetics (1) 1
medical research (1) 1
medicine, experimental (1) 1
memantine (1) 1
memantine - therapeutic use (1) 1
mendel's law (1) 1
methods (1) 1
migrating partial seizures (1) 1
migration (1) 1
molecular targeted therapy (1) 1
movement disorders (1) 1
mutational burden (1) 1
nav1.1 voltage-gated sodium channel - genetics (1) 1
neurodevelopmental disorders (1) 1
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neurology (1) 1
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1. Full Text GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
by Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O and Helbig, Katherine L and Tang, Sha and Willing, Marcia C and Tinkle, Brad T and Adams, Darius J and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M and Mefford, Heather C and Myers, Candace T and Muir, Alison M and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E and Brilstra, Eva and van Haelst, Mieke M and van der Smagt, Jasper J and Bok, Levinus A and Møller, Rikke S and Jensen, Uffe B and Millichap, John J and Berg, Anne T and Goldberg, Ethan M and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R and Zackai, Elaine H and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J and Lawson, John A and Roscioli, Tony and Jansen, Floor E and Ranza, Emmanuelle and Korff, Christian M and Lehesjoki, Anna-Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen-Hann and Tarnopolsky, Mark A and Brady, Lauren I and Wolff, Markus and Dondit, Lutz and Pedro, Helio F and Parisotto, Sarah E and Jones, Kelly L and Patel, Anup D and Franz, David N and Vanzo, Rena and Marco, Elysa and Ranells, Judith D and Di Donato, Nataliya and Dobyns, William B and Laube, Bodo and Traynelis, Stephen F and Lemke, Johannes R
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 460 - 470
BackgroundWe aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of... 
Epileptic encephalopathy | Precision medicine | Channelopathy | Genetics(clinical) | Clustering of missense variants | Genetics | Pathogenic GRIN2B mutations | Journal Article | INTELLECTUAL DISABILITY | INDIVIDUALS | MIGRATION | DISEASES | DE-NOVO MUTATIONS | GENES | GENETICS & HEREDITY | EPILEPSY | RECEPTORS | APHASIA | SUBUNIT | Neuroimaging | Receptors, N-Methyl-D-Aspartate - antagonists & inhibitors | Humans | Brain Diseases - genetics | Receptors, N-Methyl-D-Aspartate - metabolism | Molecular Targeted Therapy | Mutation - genetics | Receptors, N-Methyl-D-Aspartate - genetics | Magnetic Resonance Imaging | Brain Diseases - drug therapy | Phenotype | Heterozygote | Memantine - therapeutic use | Complications and side effects | Channelopathies | Care and treatment | Research | Encephalopathy | Movement disorders | Intellectual disabilities | Epilepsy | Cortex | Schizophrenia | Polymicrogyria | Neurodevelopmental disorders | Visual perception | Consortia | Autism | Memantine | Ligands | Mutation
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2. Full Text GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects
by Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O and Helbig, Katherine L and Tang, Sha and Willing, Marcia C and Tinkle, Brad T and Adams, Darius J and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M and Mefford, Heather C and Myers, Candace T and Muir, Alison M and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E and Brilstra, Eva and van Haelst, Mieke M and van der Smagt, Jasper J and Bok, Levinus A and Møller, Rikke S and Jensen, Uffe B and Millichap, John J and Berg, Anne T and Goldberg, Ethan M and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R and Zackai, Elaine H and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J and Lawson, John A and Roscioli, Tony and Jansen, Floor E and Ranza, Emmanuelle and Korff, Christian M and Lehesjoki, Anna Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen Hann and Tarnopolsky, Mark A and Brady, Lauren I and Wolff, Markus and Dondit, Lutz and Peo, Helio F and Parisotto, Sarah E and Jones, Kelly L and Patel, Anup D and Franz, David N and Vanzo, Rena and Marco, Elysa and Ranells, Judith D and Di Donato, Nataliya and Dobyns, William B and Laube, Bodo and Traynelis, Stephen F and Lemke, Johannes R
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 460 - 470
Background: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of... 
Epileptic encephalopathy | Precision medicine | Channelopathy | Genetics(clinical) | Clustering of missense variants | Genetics | Pathogenic GRIN2B mutations
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3. Full Text Calculating the statistical significance of rare variants causal for Mendelian and complex disorders
by Rao, Aliz R and Nelson, Stanley F
BMC Medical Genomics, ISSN 1755-8794, 06/2018, Volume 11, Issue 1, pp. 1 - 17
Background: With the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to... 
Intolerance | Protein domains | Genes | Pathogenic | SORVA | Mutational burden | Significance | HUMAN-DISEASE | ABNORMALITIES | AUTISM SPECTRUM DISORDERS | LANGE-SYNDROME | GENETIC-VARIATION | INCIDENTAL FINDINGS | HUMAN GENOME | DE-NOVO MUTATIONS | GENETICS & HEREDITY | FRAMEWORK | CAUSE INTELLECTUAL DISABILITY | Genetic disorders | Genetic variation | Medical genetics | Genetic research | Research | Health aspects | Mendel's law | Disease | Data processing | Genomes | Statistics | Peptide mapping | Proteins | Autism | Researchers | Family studies | Population | Mutation | Gene mapping | Causality | Bioinformatics | Methods | Deoxyribonucleic acid--DNA
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4. Full Text Ion Channel Genes and Epilepsy：Functional Alteration,Pathogenic Potential,and Mechanism of Epilepsy
by Feng Wei Li-Min Yan Tao Su Na He Zhi-Jian Lin Jie Wang Yi-Wu Shi Yong-Hong Yi Wei-Ping Liao
神经科学通报：英文版, ISSN 1673-7067, 2017, Volume 33, Issue 4, pp. 455 - 477
Ion channels are crucial in the generation and modulation of excitability in the nervous system and have been implicated in human epilepsy. Forty-one... 
离子通道 | 基因型 | 机制 | 致病性 | 神经系统 | 电位 | 表型相关 | 癫痫 | Neurosciences | Human Physiology | Epilepsy | Gene function | Anatomy | Pathogenic mechanism | Neurology | Pain Medicine | Biomedicine | Epilepsy gene | Genetics | Anesthesiology | Ion channel gene | FRONTAL-LOBE EPILEPSY | MIGRATING PARTIAL SEIZURES | SODIUM-CHANNEL | NEUROSCIENCES | FAMILIAL NEONATAL CONVULSIONS | CHILDHOOD ABSENCE EPILEPSY | GAIN-OF-FUNCTION | DE-NOVO MUTATIONS | NICOTINIC ACETYLCHOLINE-RECEPTOR | LONG QT SYNDROME | VOLTAGE-DEPENDENT ACTIVATION | Genetic Predisposition to Disease - genetics | Animals | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Ion Channels - genetics | Epilepsy - genetics | Epilepsy - physiopathology | Mutation - genetics | Epilepsy - pathology | Anopheles | Analysis | Genes
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5. Full Text Return of individual results in epilepsy genomic research: A view from the field
by Ottman, Ruth and Freyer, Catharine and Mefford, Heather C and Poduri, Annapurna and Lowenstein, Daniel H and Appelbaum, Paul S and Burke, Wylie and Dixon‐Salazar, Tracy and Dlugos, Dennis and Fisher, Robert S and Helbig, Katherine L and Herraiz, Laurie and Holm, Ingrid and Huntley, Melanie and Koenig, Barbara and Laux, Linda C and Porter, Brenda and Sewards, Shannon and Sheidley, Beth R and Epilepsy Return Results Workshop and Epilepsy Return of Results Workshop Participants
Epilepsia, ISSN 0013-9580, 09/2018, Volume 59, Issue 9, pp. 1635 - 1642
Summary Genomic findings are emerging rapidly in 2 large, closely related epilepsy research consortia: the Epilepsy Phenome/Genome Project and Epi4K.... 
genetics | research ethics | pathogenic variants | epileptic encephalopathy | SELF-GUIDED MANAGEMENT | CLINICAL NEUROLOGY | CLINICAL-RESEARCH | RESEARCH PARTICIPANTS | INCIDENTAL FINDINGS | INFORMED-CONSENT | DE-NOVO MUTATIONS | PREFERENCES | GENETIC RESEARCH | UTILITY | PUBLIC EXPECTATIONS | Genomics - statistics & numerical data | Epilepsy - genetics | Genomics - methods | Research Design | Humans | Disclosure - statistics & numerical data | Genetic research | Epilepsy | Genomes
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6. Full Text 2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia
by Zhao, Peiwei and Mao, Bing and Cai, Xiaonan and Jiang, Jun and Liu, Zhisheng and Lin, Jun and He, Xuelian
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 06/2018, Volume 109, pp. 96 - 100
Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental... 
Phenotype | TBR1 | Intellectual disability | Developmental delay | Pathogenic genes | Medical colleges | Medical research | Anopheles | Genetic disorders | Genes | Medicine, Experimental | Single nucleotide polymorphisms
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