期刊： NEUROPEDIATRICS, 2023; 54 (3)
Joubert syndrome (JS) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar ......
期刊： NEUROPEDIATRICS, 2023; 54 (1)
Introduction Various neurologic manifestations have already been described in children during or after severe acute respiratory syndrome coronavirus 2......
期刊： NEUROPEDIATRICS, 2023; 54 (3)
Aim This study aimed to evaluate the effectiveness of melatonin in treating insomnia in children with autism spectrum disorder (ASD).Methods Comprehen......
期刊： NEUROPEDIATRICS, 2023; 54 (2)
A 9-month-old male child, born of second-degree consanguinity, presented with a progressively enlarging head since early infancy. The child had normal......
期刊： NEUROPEDIATRICS, 2023; 54 (5)
Background For patients with pharmacoresistant epilepsy, a therapeutic option is ketogenic diet. Currently, data on young infants are scarce, particul......
期刊： NEUROPEDIATRICS, 2023; 54 (6)
Background Kleefstra's syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hy......
Aim Inpatient rehabilitation plays an important role in treating neurological diseases in children and adolescents. However, there is a lack of curren......
期刊： NEUROPEDIATRICS, 2023; 54 (5)
DEPDC5 is an upstream repressor of the mechanistic target of rapamycin pathway via the GATOR-1 complex. Pathogenic variants causing loss of function t......
期刊： NEUROPEDIATRICS, 2023; 54 (2)
Background To explore the neural difference between children with obstructive sleep apnea (OSA) and healthy controls, together with the relation betwe......
期刊： NEUROPEDIATRICS, 2023; 54 (6)
Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well un......
期刊： NEUROPEDIATRICS, 2023; 54 (6)
Background Glucose is an important fuel for the brain. In glucose transporter 1 deficiency syndrome (GLUT1DS), the transport of glucose across the blo......
期刊： NEUROPEDIATRICS, 2023; 54 (2)
Background Previous studies have shown that Tourette syndrome (TS) has an impact on academic achievements. The aim of this study was to investigate th......
期刊： NEUROPEDIATRICS, 2023; 54 (5)
Background Although it is a valuable option for children with drug-resistant epilepsy, ketogenic diet (KD) therapy is associated with several side eff......
期刊： NEUROPEDIATRICS, 2023; 54 (5)
The mechanistic target of the rapamycin signaling pathway serves as a central regulator of cell metabolism, growth, proliferation, and survival. In it......
期刊： NEUROPEDIATRICS, 2023; 54 (1)
Claude syndrome is a rare midbrain stroke syndrome characterized by ipsilateral third cranial nerve palsy and contralateral hemiataxia. So far, only a......
