Results 161 to 170 of about 3,423 (221)

Clinical characterization of IRF2BPL mutation: Case series and review of the literature. [PDF]

Medicine (Baltimore)
Lou X, Li W, Pang M, Wang Y, Zhu X, Geng J.   +5 more
europepmc   +1 more source

Ketogenic diets therapy in the management of epileptic spasms syndrome. [PDF]

Front Pediatr
Wang M, Zhao F, Sun L, Yu Y, Zhang H.
europepmc   +1 more source

Factors Influencing the Response of Patients with Infantile Epileptic Spasms Syndrome to ACTH as Repeated First-Line Therapy. [PDF]

Neurol Ther
Ge W, Pang P, Zhang Z, Wan L, Yang G.
europepmc   +1 more source

Low high-density cholesterol in patients with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO) syndrome and PEHO-like patients

, 2015
Raili Riikonen
openalex   +1 more source

Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report. [PDF]

BMC Pediatr
Bandara P, Wijenayake W, Fernando S, Padeniya P, Mettananda S.   +4 more
europepmc   +1 more source

Association Between Scalp High-Frequency Oscillations and Burden of Amplitudes and Epileptiform Discharges (BASED) Scores in Infantile Epileptic Spasms Syndrome. [PDF]

Biomolecules
Maeda K, Tsuboi H, Hosoda N, Fukumoto J, Fujita S, Yamaguchi S, Ichino N, Osakabe K, Sugimoto K, Furukawa G, Ishihara N.   +10 more
europepmc   +1 more source

First report of Tunisian patients with CDKL5-related encephalopathy. [PDF]

Epilepsia Open
Charfi Triki C, Zouari Mallouli S, Ben Jdila M, Ben Said M, Kamoun Feki F, Weckhuysen S, Masmoudi S, Fakhfakh F.   +7 more
europepmc   +1 more source

A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication. [PDF]

Hum Genome Var
Akiba T, Shimada S, Imai K, Takahashi S.
europepmc   +1 more source

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil. [PDF]

J Pediatr (Rio J)
Matos MB, Liberalesso PBN, Bara TDS, Gomes PCMA, Zeigelboim BS, Marques JM, Cordeiro ML.   +6 more
europepmc   +1 more source

Improving the inter-rater agreement of hypsarrhythmia using a simplified EEG grading scale for children with infantile spasms

, 2015
John R. Mytinger, Shaun A. Hussain, Monica P. Islam, J Gordon Millichap, Anup D. Patel, Nicole Ryan, Jaime-Dawn E. Twanow, Geoffrey L. Heyer   +7 more
openalex   +1 more source