Results 141 to 150 of about 4,530 (250)

Novel case of resolution of hypsarrhythmia following tuber resection in a patient with infantile spasms and tuberous sclerosis

, 2017
Robert Marsh, Courtney Nichols, Mary Payne   +2 more
openalex   +1 more source

Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum. [PDF]

Orphanet J Rare Dis
Mei D, Gu Y, Zhang B, Mei S, Wang X, Ma Y, Deng J, Tang J.   +7 more
europepmc   +1 more source

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders [PDF]

, 2017
Baple, El, Crosby, Ah, Houlden, H, Zollo, M   +3 more
core   +1 more source

New variants and genotype-phenotype correlation of <i>PPP3CA</i>-related developmental and epileptic encephalopathy. [PDF]

Front Neurosci
Wang T, Ouyang S, Niu X, Cheng M, Yang Y, Yang Y, Tan Q, Liu W, Yang X, Zhang Y.   +9 more
europepmc   +1 more source

Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation. [PDF]

Case Rep Pediatr
Ebrahim AK, Makhlooq JJ, Busehail MY.
europepmc   +1 more source

Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a <i>de novo</i> variant: a case report and literature review. [PDF]

Front Pediatr
Zhu GQ, Yao Y, Yang LY, Hua Y, Li GM.
europepmc   +1 more source

Low Insulin‐Like Growth Factor (IGF‐1) in the Cerebrospinal Fluid of Children with Progressive Encephalopathy, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome and Cerebellar Degeneration [PDF]

, 1999
Raili Riikonen, Mirja Somer, Ursula Turpeinen   +2 more
openalex   +1 more source

Mean global field power is reduced in infantile epileptic spasms syndrome after response to vigabatrin. [PDF]

Front Neurol
Nair A, Ewusie J, Pentz R, Whitney R, Jones K.   +4 more
europepmc   +1 more source

Cellular properties of convulsant-treated rat neo-cortical neurons during postnatal development [PDF]

, 1989
Hablitz, John H., Kellaway, Peter, Noebels, Jeffrey L., Sutor, Bernd   +3 more
core   +1 more source

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations. [PDF]

Sci Rep
Praticò AD, Di Napoli C, Salafia S, Dammino E, Piccione M, Calì F, Scifo R, Vecchio M, Zonta A, Bonsignore M, Elia M, Lo Bianco M, Polizzi A, Ruggieri M.   +13 more
europepmc   +1 more source