Results 131 to 140 of about 8,633 (168)

A Rare Case of Dual De Novo Mutations Presenting With Infantile Spasms, Congenital Contractures, and Axial Hypotonia. [PDF]

Cureus
Fakih H.
europepmc   +1 more source

Targeted gut microbiota manipulation attenuates seizures in a model of infantile spasms syndrome. [PDF]

JCI Insight, 2022
Mu C, Nikpoor N, Tompkins TA, Choudhary A, Wang M, Marks WN, Rho JM, Scantlebury MH, Shearer J.   +8 more
europepmc   +1 more source

Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly. [PDF]

Hum Genome Var
Harada M, Onuki T, Nyuzuki H, Suzuki H, Ito K, Hasegawa G, Hayashi H, Tada M, Takenouchi T, Murayama K, Suzuki H.   +10 more
europepmc   +1 more source

The gut microbiome and the ketogenic diet: A pathway towards treatment optimization in infantile spasms. [PDF]

EBioMedicine, 2022
McCafferty C.
europepmc   +1 more source

The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome. [PDF]

Hum Mol Genet
Ren D, Yang Z, Hu J, Ji L, Bi Y, Yuan F, Yan Y, Peng J, Li K, Yang K, Liu L, Mao X, Luo Y, Wang Y, He G, Li K, Peng Y.   +16 more
europepmc   +1 more source

Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms.

Oman J Ophthalmol, 2022
Madan S, Chaudhuri Z.
europepmc   +1 more source

Novel neurosteroid pregnanolone pyroglutamate suppresses neurotoxicity syndrome induced by tetramethylenedisulfotetramine but is ineffective in a rodent model of infantile spasms. [PDF]

Pharmacol Rep, 2023
Chern CR, Lauková M, Schonwald A, Kudová E, Chodounská H, Chern CJ, Shakarjian MP, Velíšková J, Velíšek L.   +8 more
europepmc   +1 more source

Combination Therapy With Vigabatrin and Prednisolone Versus Vigabatrin Alone for Infantile Spasms. [PDF]

Ann Clin Transl Neurol
Boonkrongsak R, Trongkamolchai K, Suwannachote S, Sri-Udomkajorn S, Wittawassamrankul R, Arya R, Sakpichaisakul K.   +6 more
europepmc   +1 more source

Adrenocorticotropic Hormone (ACTH)-Induced Dyskinesias in Infantile Spasms: A Video Case Report. [PDF]

Am J Case Rep, 2022
Crippa ACS, Bayer DL, Souza LP, Franklin GL.   +3 more
europepmc   +1 more source

Automatic BASED scoring on scalp EEG in children with infantile spasms using convolutional neural network. [PDF]

Front Mol Biosci, 2022
Fan Y, Chen D, Wang H, Pan Y, Peng X, Liu X, Liu Y.   +6 more
europepmc   +1 more source