F‐box and leucine‐rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact
function is not yet known. However, cellular studies have suggested that it plays significant roles …

Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic
disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. …

Compound heterozygous mutations in SHQ1 have been associated with a rare and severe
neurological disorder characterized by global developmental delay (GDD), cerebellar …

Background Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy)
were screened with a gene panel incorporating 759 OMIM genes associated …

Hereditary sensory autonomic neuropathy type IV (HSAN‐IV) is a rare autosomal recessive
disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to …

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition
caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an …

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically
heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The …

Congenital disorders of glycosylation are often associated with muscle weakness in
apparent isolation or as part of a multi-systemic disorder. We report here the clinical and …

Objectives: To describe the complex phenotype of ATP1A3 and second to report new mutation
of ATP1A3. Methods: This is a retrospective chart review of 7 patients who was diagnosed …

Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually
presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in …