Results 141 to 150 of about 3,423 (221)

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

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

Phenotypic Spectrum of STXBP1 Gene Mutations in an Emirati Case Series. [PDF]

Cureus, 2023
Pawar N, Farid Mir F, Tahir S, Kashyape P, Babiker MOE.   +4 more
europepmc   +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

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

An Unusual Presentation of Infantile Epileptic Spasm Syndrome in a Child. [PDF]

Turk Arch Pediatr
Yıldırım M, Akyol Özkara K, Çiçek S, Bektaş Ö, Teber S.   +4 more
europepmc   +1 more source

The Oral Findings and Dental Management of Patients with West Syndrome: A Case Series and Literature Review. [PDF]

J Clin Med
Limeres-Posse J, Muñoz-Navarro C, García-Mato E, Sande-López L, Diniz-Freitas M, Diz-Dios P, Rivas-Mundiña B.   +6 more
europepmc   +1 more source

Models for infantile spasms: an arduous journey to the Holy Grail... [PDF]

, 2007
Baram, Tallie Z
core   +2 more sources

A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants. [PDF]

Ital J Pediatr
Papuc SM, Glangher A, Erbescu A, Arsene OT, Arghir A, Budisteanu M.   +5 more
europepmc   +1 more source

Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. [PDF]

Mol Genet Metab, 2023
Latzer IT, Blau N, Ferreira CR, Pearl PL.   +3 more
europepmc   +1 more source