Results 171 to 180 of about 3,423 (221)

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review. [PDF]

Front Pediatr
Pan Y, Ren B, Chen L, Li Q.
europepmc   +1 more source

Favorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy. [PDF]

Epilepsy Behav Rep
Phitsanuwong C, Schimpf S, Yano ST.
europepmc   +1 more source

Outcomes following resective and disconnective strategies in the treatment of epileptic spasms: a systematic review of the literature and individual patient data meta-analysis. [PDF]

Front Neurol
Cottier R, Niazi F, Goël K, Korman C, Porte T, Ducruet T, Cossu G, Briscoe C, Singh A, Harini C, Ibrahim GM, Fallah A, Weil AG, Hadjinicolaou A.   +13 more
europepmc   +1 more source

Novel compound heterozygous mutations in LMAN2L cause early childhood refractory epilepsy. [PDF]

Ital J Pediatr
Wang T, Gao Y, Yan Y, Yin P, Tong L, Dong M.   +5 more
europepmc   +1 more source

Adrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome: a real-world study. [PDF]

World J Pediatr
He W, Wang QH, Li JW, Wang YY, Luo XM, Wan L, Wang J, Shi XY, Zhang WH, Fang F, Zou LP.   +10 more
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

Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome. [PDF]

Pediatr Rep
Al Kaissi A, Ryabykh S, Ben Chehida F, Al Kaissi H, Dougales V, Kenis VM, Grill F.   +6 more
europepmc   +1 more source

Anesthetic management using desflurane and nitrous oxide in a child with non-ketotic hyperglycinemia: a case report. [PDF]

JA Clin Rep
Mashima A, Furutani K, Baba H.
europepmc   +1 more source

Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases. [PDF]

Orphanet J Rare Dis
Urban OY, Driedger JH, Garbade SF, Hoffmann GF, Kölker S, Ries M, Syrbe S.   +6 more
europepmc   +1 more source

Adrenocortical Function Recovery from Secondary Adrenal Insufficiency After ACTH Therapy in a Patient with West Syndrome: A Case Report and Literature Review. [PDF]

Yonago Acta Med
Fujiwaki T, Matama C, Kobayashi H, Sejima H.   +3 more
europepmc   +1 more source