Mutations of DEPDC5 cause autosomal dominant focal epilepsies
about
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessConserved regulators of Rag GTPases orchestrate amino acid-dependent TORC1 signalingDefinition and diagnostic criteria of sleep-related hypermotor epilepsyAdvancing epilepsy genetics in the genomic eraGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsRegulation of mTORC1 by amino acidsMolecular architecture and function of the SEA complex, a modulator of the TORC1 pathway.Obtaining genetic testing in pediatric epilepsyBeyond indigestion: emerging roles for lysosome-based signaling in human diseaseThe GATOR2 Component Wdr24 Regulates TORC1 Activity and Lysosome FunctionNocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of functionGenetic effects on sleep/wake variation of seizures.X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.The genetic basis of DOORS syndrome: an exome-sequencing studyThe hidden genetics of epilepsy-a clinically important new paradigm.PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsyVariations in DEPDC5 gene and its association with chronic hepatitis C virus infection in Saudi Arabia.SeqBench: integrated solution for the management and analysis of exome sequencing data.Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna region, Italy[New aspects in the field of epilepsy].Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5SEA you later alli-GATOR--a dynamic regulator of the TORC1 stress response pathway.Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae.Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface ExpressionA roadmap for precision medicine in the epilepsies.Epileptic spasms are a feature of DEPDC5 mTORopathy.Novel GABRG2 mutations cause familial febrile seizuresMultiple amino acid sensing inputs to mTORC1.Epilepsy with auditory features: A heterogeneous clinico-molecular disease.Genetic forms of epilepsies and other paroxysmal disordersThe relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Epilepsy: old syndromes, new genes.The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.The genetics of the epilepsies.The contribution of next generation sequencing to epilepsy genetics.Lessons learned from gene identification studies in Mendelian epilepsy disorders.DEPDC5 mutations in familial and sporadic focal epilepsy.mTOR Inhibitors in Children: Current Indications and Future Directions in Neurology.GATOR1 complex: the common genetic actor in focal epilepsies.Precision medicine in genetic epilepsies: break of dawn?
P2860
Q21090614-C3D16B52-5694-42F0-BBE4-1F6E2B6F7107Q26741367-EFD23511-D839-42E1-86A1-569BF767EB6EQ26750804-8B2763E8-DA20-42F2-980F-8625C2F3578CQ26798035-B931E019-2479-4E8F-9F15-E9DC6527426EQ26861471-0C49738D-1414-4973-93BF-9C1556A82C34Q27025586-9BE203A1-0BFE-4BF0-882D-85AC0D912207Q27932903-E4DE92BA-0305-42D7-A621-3461F373D873Q28082549-B9066E81-FCAC-4075-851D-3C0C8B215450Q28084027-DD01EACE-DC6A-4E7A-9A45-2A2FA6D2EB7DQ28115362-F608D9F5-59BD-411B-9C29-FFADF0D517E5Q30642893-76F9028D-EFE4-4DEC-B079-9581274C6701Q30826710-3FA543EE-75A1-4487-A023-1A3EBF7E71EFQ30975761-A674E1F1-9F94-47D7-90F0-E938A1FBBFB1Q34388873-B2274F77-F211-48FB-BB5D-41E565E09D23Q34415194-3A322198-6988-47B1-BE68-1B7F11E3947AQ34492529-ADBE1777-F4BA-4FD7-A6DA-C02DF05279D4Q35030432-75DE18EA-0CE4-4E5B-9BCD-B0AE85EBA196Q35085793-A5668A6D-CF7D-40FF-A1EF-69F0D684AAEFQ35104913-143300E2-339E-49C9-AF58-B548B663E394Q35206626-A85F9D98-8FC0-4B59-B40D-223A5BC58E24Q35619223-9F9D8313-BF36-4D6F-BFAC-33CD8472A70DQ35803423-C2F0D22F-0079-4E63-8A02-66BFAB69B169Q35851857-7A45B0A1-E88F-4CD8-B01A-61081FBEEB58Q36059982-FBD12D08-FE53-4983-9582-96E7D051DBADQ36330968-88BDA5B1-9A99-440B-8086-B2C7AF0A3061Q36729167-D531336C-849E-4ABC-8480-ECC74F3C89A5Q36738596-1F3F1892-B94F-4BCC-9875-D4ED675BA29FQ36751634-B551EDBE-34F4-489A-852A-D6331F976FE0Q36766074-DB43FBD8-CFB2-449C-B551-F8FA25BE0ED2Q36805699-635A608D-40C7-4476-8177-ECA715B29254Q38187700-18F6B294-B3B9-496E-A409-4645D43B4EB5Q38205181-1BBD3E94-DA0D-48DC-85F8-2C8E99F2EFF6Q38365379-B08754C2-C5BF-4FDF-8944-E2D66B5F4332Q38501842-DE1700F9-566D-4001-A76C-71A6D7D1F791Q38632636-C1603FE8-3499-4136-BC69-7AB75E183295Q38646965-E89E7F23-99C2-4F4B-94E8-64CE70D183B8Q38760382-DAD2A0F7-BE17-46B2-B889-1B2A62E6737EQ38798392-4FA1BECD-B3F8-40FE-B0E7-1FE40903D7C0Q38840542-37E57958-6ACD-4045-8C7E-E7EEA9603CBEQ38990891-BBE15CB5-D24D-4A6B-8B91-8874C1EA7931
P2860
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 31 March 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
@en
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
@nl
type
label
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
@en
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
@nl
prefLabel
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
@en
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
@nl
P2093
P2860
P356
P1433
P1476
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
@en
P2093
Christian Marescaux
Edouard Hirsch
Emeline Mundwiller
Eric Leguern
Fabienne Picard
Guillaume Achaz
Markus Wolff
Michel Baulac
Pierre Genton
P2860
P2888
P304
P356
10.1038/NG.2601
P407
P577
2013-03-31T00:00:00Z
P5875
P6179
1012627858