Results 161 to 170 of about 59,645 (241)

The Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues. [PDF]

Case Rep Pediatr
Ammar AR, Ramah AA, Bodi J, AlZaabi N, Jhancy M.   +4 more
europepmc   +1 more source

Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy. [PDF]

Medicina (Kaunas)
Abdygalyk B, Rabandiyarov M, Lepessova M, Koshkimbayeva G, Zharkinbekova N, Tekebayeva L, Zhailganov A, Issabekova A, Myrzaliyeva B, Tulendiyeva A, Kurmantay A, Turmanbetova A, Yerkenova S.   +12 more
europepmc   +1 more source

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association. [PDF]

Front Mol Neurosci, 2023
Zhang X, Xiao N, Cao Y, Peng Y, Lian A, Chen Y, Wang P, Gu W, Xiao B, Yu J, Wang H, Shu L.   +11 more
europepmc   +1 more source

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity. [PDF]

Cureus
Amanallah MR, Chraa M, Louhab N, Balili K.   +3 more
europepmc   +1 more source

Hormonal Therapy for Infantile Spasms: A Systematic Review and Meta-Analysis. [PDF]

Front Neurol, 2022
Guang S, Mao L, Zhong L, Liu F, Pan Z, Yin F, Peng J.   +6 more
europepmc   +1 more source

CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia. [PDF]

BMC Med Genomics
Safarian Z, Mehrabi S, Rakhshani Nejad A, Alavimanesh S, Kavousinia P, Shushizadeh MH, Hassani SF, Onagh L, Sarli A, Rezaie N.   +9 more
europepmc   +1 more source

"West Syndrome-Infantile Spasms": A Pediatric Case Report. [PDF]

Int J Clin Pediatr Dent, 2021
Goswami M, Sharma S.
europepmc   +1 more source

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

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

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