过去一年中添加的文章,按日期排序

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

P Bandara, W Wijenayake, S Fernando, P Padeniya… - BMC pediatrics, 2024 - Springer
12 天前 - … regressed with the onset of seizure; at 11 months, her developmental age was below
spasms are a very rare manifestation of vitamin B12 deficiency, refractory infantile spasms

[HTML][HTML] Impact of Bacille Calmette-Guérin vaccination on the therapeutic schedule of infantile epileptic spasms syndrome: A 25-year Japanese single-center survey

H Kobayashi, H Inoue, T Matsushige, M Hoshide… - Vaccine: X, 2024 - Elsevier
24 天前 - … Of these, 49 patients were excluded due to missing data on the onset of … onset of
IESS, and four patients who developed late-onset infantile spasms (onset after one year of age)…

[HTML][HTML] Rapid Response: Infantile Spasms and Low-Dose Prednisolone in a Young Child with Down Syndrome

BN Cortez, C Cavazos, A Carrillo, B Woodliff - 2024 - scholarworks.utrgv.edu
29 天前 - … Background: Infantile spasms are an age-related epileptic disorder occurring in
infancy … development since the onset of symptoms at 4 months of age. At 10 months of age, the …

Clinical phenotype and genetic analysis of BRWD3 gene variation related infantile epileptic spasm syndrome

LI Menglin, X Zhang, Y Li, XU Na… - Chinese Journal of …, 2024 - pesquisa.bvsalud.org
40 天前 - … characteristics of infantile epileptic spasm syndrome … with BRWD3 related infantile
epileptic spasm syndrome who … (the onset age was 4 months), epileptic spasm (the onset age

Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients

CR Proepper, SM Schuetz, LM Schwarz… - …, 2024 - thieme-connect.com
43 天前 - … Median age at seizure onset was 6 months (range: 2.1–42.0), starting with
epileptic spasms in 70%. Standard treatment protocols with hormonal therapy (ACTH or …

[HTML][HTML] Predictive modeling based on functional connectivity of interictal scalp EEG for infantile epileptic spasms syndrome

S Kanai, M Oguri, T Okanishi, Y Miyamoto… - Clinical …, 2024 - Elsevier
43 天前 - Objective This study aims to delineate the electrophysiological variances between
patients with infantile epileptic spasms syndrome (IESS) and healthy controls and to devise a …

Adrenocorticotropic hormone therapy alters Q-albumin ratios in patients with infantile epileptic spasms syndrome of unknown etiology

R Matsuura, S Hamano, H Takeuchi, R Takeda… - Journal of the …, 2024 - Elsevier
56 天前 - age of onset for clusters of epileptic spasms was 1–24 months old, (2) no other type
of seizures occurred before the onset of epileptic spasms… : sex, gestational age, birth weight, …

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex

HJ Shin, S Lee, SH Kim, JS Lee, JY Oh, A Ko, HC Kang - Neurogenetics, 2024 - Springer
65 天前 - … Patients with TSC2 mutations exhibited a significantly younger age at the time of
seizure onset and had refractory epilepsy. Infantile epileptic spasms syndrome (IESS) was …

Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy

T Wang, MM Cheng, WW Liu, QZ Tan… - Zhonghua er ke za …, 2024 - europepmc.org
80 天前 - … Results: Among 12 children with WWOX gene related DEE, there were 7 boys
and 5 girls, the age of seizure onset ranged from 10 days to 6 months (median 1.8 months). …

Clinical features and underlying etiology of children with Lennox–Gastaut syndrome

Z Zhou, X Jiao, P Gong, Y Niu, Z Xu, G Zhang… - Journal of …, 2024 - Springer
88 天前 - onset seizure types and age at epilepsy onset, indicating that the group with epileptic
spasm onset had substantially younger ages at … that seizure onset age and duration of …