These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

80 related articles for article (PubMed ID: 29196314)

  • 1. Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
    Dejanovic B; Djémié T; Grünewald N; Suls A; Kress V; Hetsch F; Craiu D; Zemel M; Gormley P; Lal D; ; Myers CT; Mefford HC; Palotie A; Helbig I; Meier JC; De Jonghe P; Weckhuysen S; Schwarz G
    EMBO Mol Med; 2017 Dec; 9(12):1764. PubMed ID: 29196314
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Downregulation of gephyrin in temporal lobe epilepsy neurons in humans and a rat model.
    Fang M; Shen L; Yin H; Pan YM; Wang L; Chen D; Xi ZQ; Xiao Z; Wang XF; Zhou SN
    Synapse; 2011 Oct; 65(10):1006-14. PubMed ID: 21404332
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
    Mercimek-Mahmutoglu S; Patel J; Cordeiro D; Hewson S; Callen D; Donner EJ; Hahn CD; Kannu P; Kobayashi J; Minassian BA; Moharir M; Siriwardena K; Weiss SK; Weksberg R; Snead OC
    Epilepsia; 2015 May; 56(5):707-16. PubMed ID: 25818041
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.
    Patel J; Mercimek-Mahmutoglu S
    Indian J Pediatr; 2016 Oct; 83(10):1164-74. PubMed ID: 26821542
    [TBL] [Abstract][Full Text] [Related]  

  • 5. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
    Mignot C; Moutard ML; Trouillard O; Gourfinkel-An I; Jacquette A; Arveiler B; Morice-Picard F; Lacombe D; Chiron C; Ville D; Charles P; LeGuern E; Depienne C; Héron D
    Epilepsia; 2011 Oct; 52(10):1820-7. PubMed ID: 21762454
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Distribution of the receptor-anchoring protein gephyrin in the rat dentate gyrus and changes following entorhinal cortex lesion.
    Simbürger E; Plaschke M; Kirsch J; Nitsch R
    Cereb Cortex; 2000 Apr; 10(4):422-32. PubMed ID: 10769252
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
    Thiffault I; Speca DJ; Austin DC; Cobb MM; Eum KS; Safina NP; Grote L; Farrow EG; Miller N; Soden S; Kingsmore SF; Trimmer JS; Saunders CJ; Sack JT
    J Gen Physiol; 2015 Nov; 146(5):399-410. PubMed ID: 26503721
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.
    Yamamoto T; Shimojima K; Yano T; Ueda Y; Takayama R; Ikeda H; Imai K
    Brain Dev; 2016 Mar; 38(3):280-4. PubMed ID: 26384463
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [EEG manifestations in metabolic encephalopathy].
    Lin CC
    Acta Neurol Taiwan; 2005 Sep; 14(3):151-61. PubMed ID: 16252619
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Syndrome of Electrical Status Epilepticus During Sleep: Epileptic Encephalopathy Related to Brain Development.
    Chen XQ; Zhang WN; Hu LY; Liu MJ; Zou LP
    Pediatr Neurol; 2016 Mar; 56():35-41. PubMed ID: 26776343
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
    Dejanovic B; Lal D; Catarino CB; Arjune S; Belaidi AA; Trucks H; Vollmar C; Surges R; Kunz WS; Motameny S; Altmüller J; Köhler A; Neubauer BA; Epicure Consortium ; Nürnberg P; Noachtar S; Schwarz G; Sander T
    Neurobiol Dis; 2014 Jul; 67():88-96. PubMed ID: 24561070
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neuronal cotransport of glycine receptor and the scaffold protein gephyrin.
    Maas C; Tagnaouti N; Loebrich S; Behrend B; Lappe-Siefke C; Kneussel M
    J Cell Biol; 2006 Jan; 172(3):441-51. PubMed ID: 16449194
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.
    Takeguchi R; Haginoya K; Uchiyama Y; Fujita A; Nagura M; Takeshita E; Inui T; Okubo Y; Sato R; Miyabayashi T; Togashi N; Saito T; Nakagawa E; Sugai K; Nakashima M; Saitsu H; Matsumoto N; Sasaki M
    Brain Dev; 2018 Sep; 40(8):728-732. PubMed ID: 29699863
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept.
    Howell KB; Harvey AS; Archer JS
    Epilepsia; 2016 Mar; 57(3):343-7. PubMed ID: 26778176
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
    Milh M; Villeneuve N; Chouchane M; Kaminska A; Laroche C; Barthez MA; Gitiaux C; Bartoli C; Borges-Correia A; Cacciagli P; Mignon-Ravix C; Cuberos H; Chabrol B; Villard L
    Epilepsia; 2011 Oct; 52(10):1828-34. PubMed ID: 21770924
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].
    Terczyńska I; Mierzewska H; Szczepanik E; Antczak-Marach D
    Przegl Lek; 2010; 67(9):757-61. PubMed ID: 21387820
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.
    Byers HM; Beatty CW; Hahn SH; Gospe SM
    Pediatr Neurol; 2016 Jul; 60():79-82. PubMed ID: 27212419
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Design and synthesis of high-affinity dimeric inhibitors targeting the interactions between gephyrin and inhibitory neurotransmitter receptors.
    Maric HM; Kasaragod VB; Haugaard-Kedström L; Hausrat TJ; Kneussel M; Schindelin H; Strømgaard K
    Angew Chem Int Ed Engl; 2015 Jan; 54(2):490-4. PubMed ID: 25413248
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
    Romaniello R; Zucca C; Tenderini E; Arrigoni F; Ragona F; Zorzi G; Bassi MT; Borgatti R
    J Child Neurol; 2014 Feb; 29(2):249-53. PubMed ID: 24170257
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gephyrin accumulates at specific plasmalemma loci during neuronal maturation in vitro.
    Colin I; Rostaing P; Triller A
    J Comp Neurol; 1996 Oct; 374(3):467-79. PubMed ID: 8906511
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.