Results 131 to 140 of about 8,423 (186)

Compensatory rearrangement of parvalbumin interneuron voltage-gated sodium channel subunits in a mouse model of Dravet syndrome. [PDF]

Epilepsia
Dabrowski AK, Somarowthu A, Liebergall SR, Lorenzo DN, Goldberg EM.   +4 more
europepmc   +1 more source

Clinical Failure Validates a Fifth Predictive Preclinical Antiseizure Medicine Discovery Model. [PDF]

Epilepsy Curr
Barker-Haliski M.
europepmc   +1 more source

Familial SCN1A-Related Epilepsy in Palestinian Siblings: Challenges of Genetic Testing in Resource-Limited Settings: A Case Report. [PDF]

Clin Case Rep
Abu Hetta A, Razem RS, Shahateet S, Pujee BK, Shawabka AM, AbuIrayyeh BM.   +5 more
europepmc   +1 more source

Lost in Sleep Transition: Tangled Sleep and Thermoregulation in Dravet Syndrome. [PDF]

Epilepsy Curr
Wong JC.
europepmc   +1 more source

Brainstem Disinhibition Destabilizes Breathing in Dravet Syndrome, Leading to Sudden Unexpected Death in Epilepsy (SUDEP). [PDF]

Epilepsy Curr
Dezha-Bolteada C, Wenker IC.
europepmc   +1 more source

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel. [PDF]

Genet Med
Smith L, Bonkowski E, Prentice A, Cohen S, Lusk L, Parthasarathy S, Burns B, Butler E, Chen Y, Dady K, Dugger S, Ing A, Lassiter R, Lewis-Smith D, Mulhern M, Nguyen JNH, Olival J, Sajan SA, Thompson CH, George AL, Wagnon J, Yergert K, Magielski JH, McKee JL, Riggs E, Wiltrout K, Poduri A, Helbig I, Mefford HC.   +28 more
europepmc   +1 more source

Fenfluramine Attenuates Retinal Microglial Activation but Does Not Rescue Structural and Vascular Deficits in a Rat Model of Dravet Syndrome. [PDF]

Int J Mol Sci
Zhang Y, Qian W, Li M, Zou YY, Lu Z, Huang Z, Naumann RK, Wang H.   +7 more
europepmc   +1 more source

AAV9-mediated targeting of natural antisense transcript as a novel treatment for Dravet syndrome. [PDF]

Mol Ther Nucleic Acids
Diaz JA, Chilcott EM, Barbanoj AA, Keegan A, Gurung S, Pauzuolyte V, Waddington Z, Kyriacou M, McTague A, Cross JH, Schorge S, Lignani G, Waddington SN, Karda R.   +13 more
europepmc   +1 more source

Prime editing of a pathogenic <i>Scn1a</i> allele ameliorates seizure phenotypes in a GEFS⁺ mouse model. [PDF]

Sci Transl Med
Kissling L, Pietrafesa F, Ranucci M, Böck D, Mathis N, Kulcsár PI, Ioannidi E, Schmidheini L, Tálas A, Villiger E, Wildner H, Zhao X, Kompotis K, Zeilhofer HU, Schwank G.   +14 more
europepmc   +1 more source

The genotypic spectrum of complex febrile seizures: insights from high-risk population genetic screening in a pediatric cohort. [PDF]

Front Neurosci
Deng X, Xu Y, Chen X, Pan J, Huang S, Sun D.   +5 more
europepmc   +1 more source