X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
depdc5 (29) 29
index medicus (29) 29
epilepsy (25) 25
mammalian target (22) 22
clinical neurology (20) 20
humans (19) 19
mutation (17) 17
neurosciences (17) 17
cortical dysplasia (14) 14
depdc5 mutations (13) 13
epilepsies, partial - genetics (10) 10
focal cortical dysplasia (10) 10
mtor (10) 10
seizures (10) 10
analysis (9) 9
brain malformations (9) 9
dysplasia (9) 9
focal epilepsy (9) 9
repressor proteins - genetics (9) 9
tuberous sclerosis complex (9) 9
female (8) 8
frontal-lobe epilepsy (8) 8
genetics (8) 8
mutations (8) 8
somatic mutations (8) 8
tor serine-threonine kinases - genetics (8) 8
child (7) 7
complex (7) 7
genetic aspects (7) 7
genetics & heredity (7) 7
male (7) 7
nprl3 (7) 7
rapamycin (7) 7
animals (6) 6
genes (6) 6
life sciences (6) 6
brain (5) 5
child, preschool (5) 5
cortex (5) 5
familial focal epilepsy (5) 5
gtpase-activating proteins - genetics (5) 5
mutation - genetics (5) 5
neurology (5) 5
pedigree (5) 5
tor protein (5) 5
tor serine-threonine kinases - metabolism (5) 5
activation (4) 4
classification (4) 4
gator1 (4) 4
lgi1 (4) 4
malformations of cortical development - genetics (4) 4
medical research (4) 4
medicine, experimental (4) 4
variable foci (4) 4
adolescent (3) 3
adult (3) 3
cell biology (3) 3
cohort studies (3) 3
convulsions & seizures (3) 3
depdc (3) 3
diagnosis (3) 3
encephalopathy (3) 3
epilepsies, partial - physiopathology (3) 3
epilepsy - genetics (3) 3
focal epilepsies (3) 3
genetic research (3) 3
hbv (3) 3
intractable epilepsy (3) 3
magnetic resonance imaging (3) 3
malformations (3) 3
mechanistic target of rapamycin complex 1 (3) 3
middle aged (3) 3
mtor pathway (3) 3
neuroimaging (3) 3
neurons (3) 3
neurons and cognition (3) 3
nprl2 (3) 3
polymorphisms (3) 3
repressor proteins - metabolism (3) 3
spectrum (3) 3
sudden unexpected death (3) 3
sudep (3) 3
temporal-lobe epilepsy (3) 3
tsc1 (3) 3
tuberous sclerosis (3) 3
tumor suppressor proteins - genetics (3) 3
young adult (3) 3
1-phosphatidylinositol 3-kinase (2) 2
[ sdv.neu ] life sciences [q-bio]/neurons and cognition [q-bio.nc] (2) 2
acetylcholine nicotinic receptor (2) 2
aged (2) 2
akt protein (2) 2
alpha (2) 2
auditory features (2) 2
autosomal dominant (2) 2
autosomal-dominant (2) 2
brain - pathology (2) 2
care and treatment (2) 2
chrna4 (2) 2
chromosome 22q12 (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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 | Convulsions & seizures | Epilepsy | Index Medicus | Life Sciences | Genetics | Human genetics | focal cortical dysplasia | genetic focal epilepsy
Journal Article
Epilepsia, ISSN 0013-9580, 06/2016, Volume 57, Issue 6, pp. 994 - 1003
Journal Article
by Ma, N and Zhang, X and Yu, F and Gao, P and Fan, Q and Liu, L and Liu, D
Journal of Viral Hepatitis, ISSN 1352-0504, 07/2014, Volume 21, Issue 7, pp. e29 - e38
Recent studies have associated genetic variation near the interleukin 28B ( IL 28B / IFN ‐λ3 ) gene with natural clearance of the hepatitis C virus ( HCV )... 
DEPDC | IFN | λs | PAPL | Polymorphisms | HBV | IFN-λs | DEPDC5 | IL10RB
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 03/2018, Volume 111, pp. 91 - 101
is a newly identified epilepsy-related gene implicated in focal epilepsy, brain malformations, and Sudden Unexplained Death in Epilepsy (SUDEP). , DEPDC5... 
Familial focal epilepsy | Focal cortical dysplasia | Megalencephaly | mTOR | Conditional knockout | DEPDC5 | Seizures | MAMMALIAN TARGET | SURVIVAL | MYELINATION | EEG | PHENOTYPES | SUPPRESSION | NEUROSCIENCES | TUBEROUS SCLEROSIS COMPLEX | MUTATIONS | BRAIN | Brain | Dysplasia | Neurons | Analysis | Epilepsy | Seizures (Medicine) | Neurophysiology | Index Medicus
Journal Article
Current Biology, ISSN 0960-9822, 06/2018, Volume 28, Issue 12, pp. 1924 - 1937.e5
Mutations in are causal factors for a broad spectrum of focal epilepsies, but the underlying pathogenic mechanisms are still largely unknown. To address this... 
epilepsy | GABA | mTOR | zebrafish | neurodevelopment | DEPDC5 | MAMMALIAN TARGET | RAPAMYCIN | DOMINANT FOCAL EPILEPSIES | CORTICAL DYSPLASIA | LYMPHANGIOLEIOMYOMATOSIS | TUBEROUS SCLEROSIS COMPLEX | GENE | TRANSFER-RNA SYNTHETASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | VARIABLE FOCI | MUTATIONS | CELL BIOLOGY | Seizures (Medicine) | Neurons | Analysis | Epilepsy
Journal Article
Neuroscience Letters, ISSN 0304-3940, 04/2018, Volume 671, pp. 140 - 147
Ras homology enriched in brain (Rheb) is a GTPase that activates the protein kinase mammalian Target of Rapamycin (mTOR). Rheb mutations cause intellectual... 
mTOR | Focal cortical dysplasia | Rheb | Dendrite | MAMMALIAN TARGET | ACTIVATION | IN-UTERO ELECTROPORATION | DEPDC5 MUTATIONS | NEUROSCIENCES | BRAIN MALFORMATIONS | CEREBRAL-CORTEX | OLFACTORY MICRONODULES | TUBEROUS SCLEROSIS COMPLEX | FOCAL EPILEPSY | Dysplasia | Seizures (Medicine) | Neurons | Growth | Analysis | Index Medicus | focal cortical dysplasia | dendrite
Journal Article
Clinics and Research in Hepatology and Gastroenterology, ISSN 2210-7401, 08/2019, Volume 43, Issue 4, pp. 446 - 450
HBV and/or HCV infection is the main cause of hepatocellular carcinoma (HCC), but the molecular mechanisms by which HBV promotes HCC are not clear. In 2011,... 
Hepatocellular carcinoma | Hepatitis B virus | DEPDC5 | Polymorphisms | B-VIRUS INFECTION | LAMIVUDINE | DIAGNOSIS | COMPLEX | THERAPY | HEPATITIS-B | GASTROENTEROLOGY & HEPATOLOGY | EPIDEMIOLOGY | Index Medicus
Journal Article
Epileptic Disorders, ISSN 1294-9361, 06/2019, Volume 21, Issue 3, pp. 289 - 294
Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant disorder characterized by focal seizures arising from different brain lobes in... 
magnetoencephalogram | familial focal epilepsy with variable foci | DEPDC5 | refractory epilepsy | CORTICAL DYSPLASIA | CLINICAL NEUROLOGY | Magnetic resonance imaging | Magnetoencephalography | Epilepsy | EEG | Pleckstrin | Diagnosis | Mutation | Dishevelled protein | Seizures | Hereditary diseases
Journal Article