Results 141 to 150 of about 1,141,201 (199)

A novel GABAergic dysfunction in human Dravet syndrome

, 2018
OBJECTIVE: Dravet syndrome is a rare neurodevelopmental disease, characterized by general cognitive impairment and severe refractory seizures. The majority of patients carry the gene mutation SCN1A, leading to a defective sodium channel that contributes ...
Palma, E, Aronica, E, Van Vliet, EA, Thom, M, Ruffolo, G, Limatola, C, Roseti, C, Cifelli, P   +7 more
core  

Temperature-related seizures as a daily challenge in Dravet syndrome: Beyond fevers. [PDF]

Dev Med Child Neurol
Hood V.
europepmc   +1 more source

Urine-Derived iPSC Neurospheres Uncover Proteomic Correlates of Clinical Severity in Dravet Syndrome. [PDF]

J Neurochem
Martins M, Nugue G, Aguiar A, Souza LRQ, Abrantes PV, Trajano JR, Stelling M, Junqueira M, Rehen S, Guimarães MZP.   +9 more
europepmc   +1 more source

Dravet Syndrome Associated With a CSNK2B-Related Neurodevelopmental Disorder. [PDF]

Cureus
Yeboah AO, Tyshkov CD, Ghosh S.
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

Disruptive impacts of developmental and epileptic encephalopathies on patient and family life: Interim results of a quality-of-life survey

Neurotherapeutics
Laurie D. Bailey, BCPA, Tracy Dixon-Salazar, PhD, Mary Anne Meskis, A. Michelle Manzo, MPH, Mercedes Martin, MSN, FNP-C, Amélie Lothe, PhD, Andrea L. Wilkinson   +6 more
doaj   +1 more source

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

Soticlestat as an adjunctive therapy in children and young adults with Dravet syndrome. [PDF]

Epilepsia
Sullivan J, Valente K, Villanueva V, Strzelczyk A, Nabbout R, Nakagawa E, Zhang Y, Zolnowska M, Khan Y, Dong C, Hsiao S, Sheikh SI, von Rosenstiel P, Asgharnejad M, Murthy V.   +14 more
europepmc   +1 more source

Labour of Love: A Sequential Exploratory Mixed-Methods Study on the Impact of Caring for a Child With Dravet Syndrome. [PDF]

J Intellect Disabil Res
Postma A, Milota M, Jongmans MJ, Brilstra EH, Zinkstok JR.   +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