A growing number of genes have been identified in individuals with cerebral palsy (CP);
however, many of these studies have poor compliance with the cerebral palsy clinical …

Inherited forms of motor neuron disease (MND), including hereditary spastic paraplegias
(HSP), are associated with the death or dysfunction of nerve cells that control skeletal …

Developmental encephalopathies (DE), epileptic encephalopathies (EE) and developmental
and epileptic encephalopathies (DEE) are overlapping neurodevelopmental disorders …

Background Multiple sclerosis (MS) is a neuroinflammatory disease triggered by a
combination of genetic traits and external factors. Autoimmune nature of MS is proven by the …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
heterogeneous clinical phenotypes. Patients often experience abnormal sensory perception …

Introduction Deletion or mutation of members of the spectrin gene family contributes to many
neurologic and neuropsychiatric disorders. While each spectrinopathy may generate distinct …

The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS
panels, whereas exome sequencing (ES) has occasionally been employed. In this …

Background The ketogenic diet (KD) is an effective treatment for epilepsy. In recent years,
studies have shown favorable efficacy of KD in epilepsy from genetic disorders. In this study …

Results AP4B1 variants (NM_001253852. 3, GRCh37/hg19) were detected in three
unrelated individuals presenting with sporadic adult-onset ataxia using NGS (Fig. 1). These …

Autophagy is a fundamental and evolutionary conserved biological pathway with vital roles
in intracellular quality control and homeostasis. The process of autophagy involves the …