Results 141 to 150 of about 537,666 (200)

Clinical characteristics and genetic analysis of patients with SCN1A gene pathological variant-related disorders: a single-center retrospective study. [PDF]

Ital J Pediatr
He M, Min X, Shu J, Wu B, Qi H, Wang X, Zhang G.   +6 more
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

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

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

Structural brain MRI abnormalities in <i>SCN1A</i>-, <i>SCN2A</i>-, <i>SCN3A</i>-, and <i>SCN8A</i>-related epilepsies: a cohort study. [PDF]

Front Neurol
Ahn D, Kim D, Sang HD, Cho H, Ko A, Shin NY, Kang HC, Lee JS, Teng LY, Kim SH.   +9 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

Rodent models of genetic epilepsy and its association with neurocognitive impairment- a systematic review. [PDF]

Front Pharmacol
Foo RYN, Chiew IJL, Arulsamy A, Lee VLL.
europepmc   +1 more source

Genetic medicines for epilepsy: unlocking new avenues for seizure control. [PDF]

Front Bioeng Biotechnol
Wee IC, Przybyla M, Touma J, Ittner LM, van Eersel J.   +4 more
europepmc   +1 more source

Disrupted inhibitory interneuron development in SCN1A Dravet syndrome revealed by patient-derived subpallial organoids. [PDF]

Epilepsia
Mattei C, Mao M, Byars S, Syazwan EM, Oliva M, Karle TJ, Richards K, Scheffer IE, Petrou S, Maljevic S.   +9 more
europepmc   +1 more source

Disrupted temperature-sleep coupling mechanism in a Dravet syndrome mouse model. [PDF]

Nat Commun
Fadila S, Krivoshein G, Majadly H, Mavashov A, Ranen S, Brusel M, Dopeso-Reyes IG, Beucher B, Kremer EJ, Tolner EA, Rubinstein M.   +10 more
europepmc   +1 more source