Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
about
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancySodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizuresTruncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plusDevelopmental neurotoxicity of pyrethroid insecticides: critical review and future research needsGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsIon channels and epilepsyStructural requirements for interaction of sodium channel beta 1 subunits with ankyrinMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancySodium channel carboxyl-terminal residue regulates fast inactivation.Seizure Reduction with Fluoxetine in Dravet Syndrome.Genetic testing in the epilepsies--report of the ILAE Genetics CommissionUnraveling monogenic channelopathies and their implications for complex polygenic diseaseInherited disorders of voltage-gated sodium channels.Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping.Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder.Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studiesGain-of-function Nav1.8 mutations in painful neuropathy.Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.Epilepsy is a risk factor for sudden cardiac arrest in the general population.Identification of epilepsy genes in human and mouseA genome-wide survey of human short-term memory.Advancing the medical management of epilepsy: disease modification and pharmacogenetics.The neuronal channelopathies.The role of spiking and bursting pacemakers in the neuronal control of breathingPolymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?Is plasticity of GABAergic mechanisms relevant to epileptogenesis?Febrile seizures: an updateGeneralized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.Multidisciplinary approach to childhood epilepsy: exploring the scientific rationale and practical aspects of implementation.Inherited Channelopathies Associated with Epilepsy.Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGenetics of idiopathic epilepsies.Incidence of Dravet Syndrome in a US Population.Sodium channel mutations in epilepsy and other neurological disorders.Differential sialylation modulates voltage-gated Na+ channel gating throughout the developing myocardiumNeonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.Voltage-gated sodium channels: action players with many faces.
P2860
Q24533495-DD9E8573-C510-4897-843D-906CEB15D33CQ24544180-2E57745B-B8C8-4E21-B006-880DB164FE98Q24632952-A9D1D9AF-5E9B-4B23-8BAD-B9509259D356Q24814126-6DF82BCD-F46C-4B09-82A3-99109A38D7D8Q26861471-7197D39C-3FDD-4891-948B-D2609B5E8E4FQ28189601-681A3A12-03D7-4B86-9ED3-26B7FCC89519Q28216947-16A9313E-86A2-45D2-A6CE-9797FC8952A8Q28240097-29D0EFF5-1BBB-4BE8-B575-484AA05BC556Q28585126-BE559F4C-A473-4CA0-A7C0-540370C1B01EQ33726588-29601FC1-73E4-484E-B55C-338D92C024C0Q33773087-754458C3-0E2D-42AB-8FC2-A108F5794788Q33794130-976B3B43-8F64-449D-9CC0-83AEACFEE954Q33905030-0BE9413B-D63F-4C48-99A7-231FB8F2058BQ33905815-DACC1D8B-AB4A-45C9-ACE3-697BBA619B96Q33906328-F0D486B0-EAC6-41C3-BCF0-07DD14BB2528Q34271352-E5A1797E-14A5-4225-965B-21EA9840303AQ34307393-033ADB96-F896-4937-8ED4-719106BF5F53Q34309236-2E59406D-D28A-4B2B-AD14-67570FC69086Q34381755-BDAE0E49-23C8-43B8-BBA0-0AF2C60DCAFCQ34391007-ACD08157-EC12-47FF-B449-B9F5B35B3AD3Q34432267-F1E50313-D125-41E1-8D18-5331C4B0F1E1Q34538809-19E43E61-2697-4169-99F4-19D79218D56CQ34579490-C5E5699F-20B6-49D3-B1C8-72DAF396B7DAQ34649239-56F5C84D-7ABB-4D97-B00D-7EF4A6D5BDCAQ35004583-4EACE2DB-5B82-469A-8E6A-8AA79D44FA90Q35113513-8FB9653F-BA34-4A26-9327-C7A026224534Q35207594-E2A851CD-E114-4612-92F5-AC9072083476Q35280065-542CFE87-B90D-4A09-B734-84BE76D3C21FQ35635812-207B5707-C882-4C08-8DEB-08BEE73020D8Q35821624-0CD8051B-A544-4DCA-8540-558A16F647FDQ35962079-36308657-2E01-41FA-8DB4-09DCB606074FQ35962539-5CA29B73-9A54-410E-9235-D0B3D5FD9451Q36061586-45D4AFAA-4E7C-4477-A538-7BD0C1472ADCQ36091806-34D11B3F-02D5-4A0C-B3D7-AB508A674CC8Q36210601-E31D91AE-B0C2-4810-BC80-FB6E5507CDA4Q36216288-F6B5BA8F-AE7F-49F3-AF82-1919DD1C3F12Q36295618-76EB9B85-76B4-41BE-8C59-9C1FA56AB821Q36344246-5A3CD5C5-96BF-482E-8B67-F9A262453B08Q36344256-24F8B038-C551-40D0-88A0-4EC52F75E4B1Q36652537-ECC9C99F-A6EE-473E-8AA1-1BD05722EB1C
P2860
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Neuronal sodium-channel alpha1 ...... psy with febrile seizures plus
@nl
Neuronal sodium-channel alpha1 ...... sy with febrile seizures plus.
@ast
Neuronal sodium-channel alpha1 ...... sy with febrile seizures plus.
@en
type
label
Neuronal sodium-channel alpha1 ...... psy with febrile seizures plus
@nl
Neuronal sodium-channel alpha1 ...... sy with febrile seizures plus.
@ast
Neuronal sodium-channel alpha1 ...... sy with febrile seizures plus.
@en
prefLabel
Neuronal sodium-channel alpha1 ...... psy with febrile seizures plus
@nl
Neuronal sodium-channel alpha1 ...... sy with febrile seizures plus.
@ast
Neuronal sodium-channel alpha1 ...... sy with febrile seizures plus.
@en
P2093
P2860
P50
P356
P1476
Neuronal sodium-channel alpha1 ...... psy with febrile seizures plus
@en
P2093
A L George
B Ben-Zeev
G Kremmidiotis
G R Sutherland
I Goikhman
J C Mulley
P2860
P304
P356
10.1086/319516
P407
P577
2001-03-13T00:00:00Z