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1. Full Text Mutations of DEPDC5 cause autosomal dominant focal epilepsies
by Ishida, Saeko and Picard, Fabienne and Rudolf, Gabrielle and Noé, Eric and Achaz, Guillaume and Thomas, Pierre and Genton, Pierre and Mundwiller, Emeline and Wolff, Markus and Marescaux, Christian and Miles, Richard and Baulac, Michel and Hirsch, Edouard and Leguern, Eric and Baulac, Stéphanie
Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 552 - 555
The main familial focal epilepsies are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with... 
CHROMOSOME 22Q12 | FRONTAL-LOBE EPILEPSY | GENE | GENETICS & HEREDITY | VARIABLE FOCI | DISORDER | SUGGESTION | LINKAGE | FAMILIAL PARTIAL EPILEPSY | FEATURES | Epilepsies, Partial - diagnosis | Humans | Middle Aged | Molecular Sequence Data | Male | Case-Control Studies | Brain - metabolism | Young Adult | Adult | Female | Child | Genetic Linkage | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Guanine Nucleotide Exchange Factors - genetics | Computational Biology | Genotype | Mutation - genetics | Sequence Homology, Amino Acid | Exome - genetics | Pedigree | Adolescent | Brain - pathology | Epilepsies, Partial - genetics | Genome, Human | Cohort Studies | Genetic aspects | Research | Gene mutations | Health aspects | Epilepsy | Risk factors | Proteins | Genetics | Mutation | Genes | Life Sciences | Biodiversity
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2. Full Text De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin 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 Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized... 
INTELLECTUAL DISABILITY | GRIN2A MUTATIONS | PROTEIN | STXBP1 | EPILEPSIES | GENETICS & HEREDITY | DYNAMIN-1 | SCHIZOPHRENIA | PATTERNS | APHASIA | Fatty Acid Synthase, Type I - genetics | Receptors, GABA-B - genetics | Synaptic Transmission - genetics | Humans | Male | Spasms, Infantile - genetics | Gene Regulatory Networks | Mutation - genetics | Dynamin I - genetics | Lennox Gastaut Syndrome - genetics | Protein Interaction Maps | Exome - genetics | Ryanodine Receptor Calcium Release Channel - genetics | Female | Infant, Newborn | Cohort Studies | Genetic research | Genetic aspects | Research | Gene mutations | Epilepsy
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3. Full Text Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents
by Khetarpal, Sumeet A and Schjoldager, Katrine T and Christoffersen, Christina and Raghavan, Avanthi and Edmondson, Andrew C and Reutter, Heiko M and Ahmed, Bouhouche and Ouazzani, Reda and Peloso, Gina M and Vitali, Cecilia and Zhao, Wei and Somasundara, Amritha Varshini Hanasoge and Millar, John S and Park, YoSon and Fernando, Gayani and Livanov, Valentin and Choi, Seungbum and Noé, Eric and Patel, Pritesh and Ho, Siew Peng and Kirchgessner, Todd G and Wandall, Hans H and Hansen, Lars and Bennett, Eric P and Vakhrushev, Sergey Y and Saleheen, Danish and Kathiresan, Sekar and Brown, Christopher D and Abou Jamra, Rami and LeGuern, Eric and Clausen, Henrik and Rader, Daniel J and Myocardial Infarction Exome and Myocardial Infarction Exome Sequencing Study
Cell Metabolism, ISSN 1550-4131, 08/2016, Volume 24, Issue 2, pp. 234 - 245
Human genetics studies have implicated , encoding GalNAc-T2, as a regulator of high-density lipoprotein cholesterol (HDL-C) metabolism, but the mechanisms... 
PHOSPHOLIPID-TRANSFER PROTEIN | GLYCOPROTEOME | PLASMA | VARIANTS | O-GLYCOSYLATION | MUTATION | ENDOCRINOLOGY & METABOLISM | LOCI | CHOLESTEROL HOMEOSTASIS | SECRETION | ASSOCIATION | CELL BIOLOGY | Liver - enzymology | Humans | Glycoproteins - metabolism | Lipoproteins, HDL - metabolism | Gene Knockdown Techniques | Phospholipid Transfer Proteins - metabolism | Angiopoietin-like Proteins | Base Sequence | N-Acetylgalactosaminyltransferases - genetics | Primates | Models, Animal | N-Acetylgalactosaminyltransferases - chemistry | N-Acetylgalactosaminyltransferases - metabolism | Amino Acid Sequence | N-Acetylgalactosaminyltransferases - deficiency | Angiopoietins - metabolism | Rats | Mutation - genetics | Mice, Knockout | Triglycerides - metabolism | Homozygote | Phenotype | Animals | Proteomics | Cholesterol, HDL - blood | Polymorphism, Single Nucleotide - genetics | Mice | Medical colleges | Analysis | Rodents | Physiological aspects | Blood lipids | Population genetics
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4. Full Text PCDH19‐related infantile epileptic encephalopathy: An unusual X‐linked inheritance disorder
by Depienne, Christel and LeGuern, Eric
Human Mutation, ISSN 1059-7794, 04/2012, Volume 33, Issue 4, pp. 627 - 634
PCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148‐amino‐acid protein, highly expressed during brain development, could play significant roles in... 
epilepsy | X‐linked | male sparing | cellular interference | PCDH19 | females | X-linked | Cellular interference | Females | Epilepsy | Male sparing | DE-NOVO | MENTAL-RETARDATION | DRAVET SYNDROME | DELTA-PROTOCADHERINS | CONVULSIVE DISORDER | PROTOCADHERIN 19 MUTATIONS | GENETICS & HEREDITY | PCDH19 MUTATIONS | ONSET EPILEPSY | FAMILIAL FORM | Genes, X-Linked | Cadherins - metabolism | Humans | Epilepsy - genetics | Female | Male | Mutation | Cadherins - genetics | Epilepsy - etiology | Epilepsy - diagnosis | Polymorphism, Genetic | Life Sciences | Biochemistry, Molecular Biology | Cadherins
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5. Full Text Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes
by Landoulsi, Zied and Laatar, Fatma and Noé, Eric and Mrabet, Saloua and Ben Djebara, Mouna and Achaz, Guillaume and Nava, Caroline and Baulac, Stéphanie and Kacem, Imen and Gargouri-Berrechid, Amina and Gouider, Riadh and Leguern, Eric
neurogenetics, ISSN 1364-6745, 8/2018, Volume 19, Issue 3, pp. 165 - 178
Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures... 
Human Genetics | Neurosciences | Biomedicine | MAST4 | Genetic generalized epilepsy | Molecular Medicine | Polygenic inheritance | Gene panel | CACNA1H | SCN1A | VARIANTS | SUSCEPTIBILITY | CLINICAL NEUROLOGY | CHILDHOOD ABSENCE EPILEPSY | JUVENILE MYOCLONIC EPILEPSY | FEBRILE SEIZURES PLUS | GENETICS & HEREDITY | RECEPTOR GENE | MUTATIONS | CONSANGUINITY | IDIOPATHIC EPILEPSY | GENOME-WIDE ASSOCIATION | Medical research | Anopheles | Genes | Epilepsy | Genetic research | Medicine, Experimental | Disease susceptibility | Seizures (Medicine) | Phenotypes | Heredity | Genetic factors | Children | Mutation | Population genetics | Seizures
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6. Full Text Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
by Baulac, Stéphanie and Ishida, Saeko and Marsan, Elise and Miquel, Catherine and Biraben, Arnaud and Nguyen, Dang Khoa and Nordli, Doug and Cossette, Patrick and Nguyen, Sylvie and Lambrecq, Virginie and Vlaicu, Mihaela and Daniau, Maïlys and Bielle, Franck and Andermann, Eva and Andermann, Frederick and Leguern, Eric and Chassoux, Francine and Picard, Fabienne
Annals of Neurology, ISSN 0364-5134, 04/2015, Volume 77, Issue 4, pp. 675 - 683
Objective The DEPDC5 (DEP domain‐containing protein 5) gene, encoding a repressor of the mTORC1 signaling pathway, has recently emerged as a major gene mutated... 
FRONTAL-LOBE EPILEPSY | TUBEROUS SCLEROSIS COMPLEX | SLEEP-RELATED EPILEPSY | PATHWAY | MRI | GENETICS | MECHANISMS | NEUROSCIENCES | BRAIN MALFORMATIONS | SOMATIC MUTATIONS | MTOR | CLINICAL NEUROLOGY | Epilepsies, Partial - diagnosis | Humans | Middle Aged | Repressor Proteins - genetics | Male | Malformations of Cortical Development - genetics | Mutation - genetics | Young Adult | Malformations of Cortical Development - diagnosis | Pedigree | Adolescent | Adult | Female | Epilepsies, Partial - genetics | Child | Drug resistance | Epilepsy | Mutation | Neuroscience | Cognitive science
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7. Full Text Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy
by Ribierre, Théo and Deleuze, Charlotte and Bacq, Alexandre and Baldassari, Sara and Marsan, Elise and Chipaux, Mathilde and Muraca, Giuseppe and Roussel, Delphine and Navarro, Vincent and Leguern, Eric and Miles, Richard and Baulac, Stéphanie
Journal of Clinical Investigation, ISSN 0021-9738, 06/2018, Volume 128, Issue 6, pp. 2452 - 2458
DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the... 
TARGET | MEDICINE, RESEARCH & EXPERIMENTAL | SEIZURES | SPREADING DEPOLARIZATION | PATHWAY | IN-UTERO ELECTROPORATION | GENES | CARDIAC-ARRHYTHMIA | DISORDERS | DEATH | SOMATIC MUTATIONS | Dendrites - pathology | Neurons - pathology | Humans | Spine - metabolism | Male | GTPase-Activating Proteins - metabolism | Mechanistic Target of Rapamycin Complex 1 - genetics | Mice, Mutant Strains | Germ-Line Mutation | Female | Neurons - metabolism | Malformations of Cortical Development - pathology | Spine - pathology | Repressor Proteins - metabolism | Dendrites - metabolism | Malformations of Cortical Development - metabolism | Repressor Proteins - genetics | Malformations of Cortical Development - genetics | Epilepsies, Partial - pathology | Mechanistic Target of Rapamycin Complex 1 - metabolism | Epilepsies, Partial - metabolism | Animals | CRISPR-Cas Systems | Epilepsies, Partial - genetics | Mice | GTPase-Activating Proteins - genetics | CRISPR | Cardiac arrhythmia | Dysplasia | Epilepsy | Genes | Cortex | Case reports | Electroporation | Amino acids | Genomes | Chemoreception | Drug resistance | Proteins | Dendritic spines | Surgery | Rodents | Mosaicism | Genetic engineering | Mutation
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8. Full Text Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
by Teyssou, Elisa and Takeda, Takahiro and Lebon, Vincent and Boillée, Séverine and Doukouré, Brahima and Bataillon, Guillaume and Sazdovitch, Véronique and Cazeneuve, Cécile and Meininger, Vincent and LeGuern, Eric and Salachas, François and Seilhean, Danielle and Millecamps, Stéphanie
Acta Neuropathologica, ISSN 0001-6322, 4/2013, Volume 125, Issue 4, pp. 511 - 522
Mutations in SQSTM1 encoding the sequestosome 1/p62 protein have recently been identified in familial and sporadic cases of amyotrophic lateral sclerosis... 
Pathology | Neurosciences | Medicine & Public Health | Neuropathology | Motor neuron disease | Paget’s disease | FTLD–ALS | p62 | Familial and sporadic ALS | FTLD-ALS | Paget's disease | DOMAIN | UBIQUITIN-BINDING | BINDING PROTEIN P62 | TDP-43 PATHOLOGY | ALS PATIENTS | PATHOLOGY | FRONTOTEMPORAL LOBAR DEGENERATION | C9ORF72 | NEUROSCIENCES | CLINICAL NEUROLOGY | PAGETS-DISEASE | BONE | HEXANUCLEOTIDE REPEAT | Sequestosome-1 Protein | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Ubiquitin - metabolism | Male | Ubiquitin - genetics | DNA-Binding Proteins - genetics | DNA-Binding Proteins - metabolism | Amyotrophic Lateral Sclerosis - pathology | Adaptor Proteins, Signal Transducing - genetics | Aged, 80 and over | Brain - pathology | Adult | Female | Heterozygote | Aged | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Ubiquitin | Amyotrophic lateral sclerosis | Genetic aspects | Gene mutations | Analysis | Genes
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9. Full Text The landscape of epilepsy-related GATOR1 variants
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d’Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and Nordli, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 398 - 408
Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative... 
Genetic focal epilepsy | mTORC1 pathway | Focal cortical dysplasia | SUDEP | DEPDC5 | FAMILIAL FOCAL EPILEPSY | MAMMALIAN TARGET | CORTICAL DYSPLASIA | COMPLEX | DEPDC5 MUTATIONS | MODEL | SUDDEN UNEXPECTED DEATH | GTPASES | GENETICS | GENES | GENETICS & HEREDITY | Brugada Syndrome - genetics | Seizures - genetics | Brugada Syndrome - physiopathology | Humans | Child, Preschool | INDEL Mutation - genetics | Infant | Male | Multiprotein Complexes - genetics | Epilepsy - physiopathology | Seizures - complications | Epilepsy - epidemiology | Seizures - physiopathology | Mechanistic Target of Rapamycin Complex 1 - genetics | Tumor Suppressor Proteins - genetics | Epilepsy - genetics | Female | Child | Infant, Newborn | Brugada Syndrome - mortality | Genetic Predisposition to Disease | Repressor Proteins - genetics | DNA Copy Number Variations - genetics | Signal Transduction - genetics | Epilepsy - complications | Pedigree | Seizures - epidemiology | Adolescent | GTPase-Activating Proteins - genetics | Loss of Function Mutation - genetics | Life Sciences | Genetics | Human genetics | focal cortical dysplasia | genetic focal epilepsy
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10. Full Text De novo mutations in HCN1 cause early infantile epileptic encephalopathy
by Nava, Caroline and Dalle, Carine and Rastetter, Agnès and Striano, Pasquale and De Kovel, Carolien G F and Nabbout, Rima and Cancès, Claude and Ville, Dorothée and Brilstra, Eva H and Gobbi, Giuseppe and Raffo, Emmanuel and Bouteiller, Delphine and Marie, Yannick and Trouillard, Oriane and Robbiano, Angela and Keren, Boris and Agher, Dahbia and Roze, Emmanuel and Lesage, Suzanne and Nicolas, Aude and Brice, Alexis and Baulac, Michel and Vogt, Cornelia and El Hajj, Nady and Schneider, Eberhard and Suls, Arvid and Weckhuysen, Sarah and Gormley, Padhraig and Lehesjoki, Anna-Elina and De Jonghe, Peter and Helbig, Ingo and Baulac, Stéphanie and Zara, Federico and Koeleman, Bobby P C and Haaf, Thomas and Leguern, Eric and Depienne, Christel and EuroEPINOMICS RES Consortiumm and EuroEPINOMICS RES Consortium
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 640 - 645
Hyperpolarization-activated, cyclic nucleotide gated (HCN) channels contribute to cationic current in neurons and regulate the excitability of neuronal... 
HIPPOCAMPUS | IDIOPATHIC GENERALIZED EPILEPSY | GENETICS & HEREDITY | NEURONS | CATION CURRENT | ACTIVATED PACEMAKER CHANNELS | COPY NUMBER VARIANTS | EXPRESSION | EPILEPTOGENESIS | MICE LACKING | ABSENCE EPILEPSY | Amino Acid Sequence | Cricetinae | Cricetulus | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Aicardi Syndrome - genetics | Mutation, Missense | Spasms, Infantile - genetics | Sequence Analysis, DNA | Potassium Channels - genetics | Sequence Homology, Amino Acid | Point Mutation | Patch-Clamp Techniques | Animals | DNA Mutational Analysis | Pedigree | Female | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels - genetics | CHO Cells | Cohort Studies | Gene mutations | Genetic susceptibility | Exome sequencing | Ohtahara syndrome | Genetic research | Genetic aspects | Research | Identification and classification | Methods | Studies | Disability | Autism | Epilepsy | Parkinsons disease | Amino acids | Mutation | Pediatrics | Neurons and Cognition | Neurobiology | Aicardi Syndrome | Life Sciences | Genetics | Potassium Channels | Human health and pathology | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels | Spasms, Infantile | Human genetics
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11. Full Text Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
by Baulac, Stéphanie and Lenk, Guy M and Dufresnois, Béatrice and Ouled Amar Bencheikh, Bouchra and Couarch, Philippe and Renard, Julie and Larson, Peter A and Ferguson, Cole J and Noé, Eric and Poirier, Karine and Hubans, Christine and Ferreira, Stéphanie and Guerrini, Renzo and Ouazzani, Reda and El Hachimi, Khalid Hamid and Meisler, Miriam H and Leguern, Eric
Neurology, ISSN 0028-3878, 03/2014, Volume 82, Issue 12, pp. 1068 - 1075
OBJECTIVE:The aim of this study was to identify the causal gene in a consanguineous Moroccan family with temporo-occipital polymicrogyria, psychiatric... 
YUNIS-VARON-SYNDROME | WARBURG MICRO SYNDROME | PROTEIN | CMT4J | RAT | CORTEX | NEURODEGENERATION | MUTATIONS | CORTICAL DEVELOPMENT | CLINICAL NEUROLOGY | Humans | Male | Epilepsy - physiopathology | Mutation, Missense - genetics | Exome | Morocco | Malformations of Cortical Development - physiopathology | Adult | Epilepsy - genetics | Female | Malformations of Cortical Development - pathology | Fibroblasts - metabolism | Flavoproteins - genetics | Cells, Cultured | Malformations of Cortical Development - genetics | Chromosomes, Human, Pair 6 | Fibroblasts - pathology | Mice, Knockout | Phosphoric Monoester Hydrolases | Phenotype | Animals | Pedigree | Phosphoinositide Phosphatases | Consanguinity | Mice | Epilepsy - pathology | 235 | 120
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