Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Acute encephalopathy is a constellation of syndromes in which immune response,
metabolism and neuronal excitation are affected in a variable fashion. Most of the …

Background Neuropathic pain is common in peripheral neuropathy. Recent genetic studies
have linked pathogenic voltage-gated sodium channel (VGSC) variants to human pain …

Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe
various disorders caused by abnormal brain development and characterized by impairments …

Developmental and epileptic encephalopathies (DEEs) represent a large clinical and
genetic heterogeneous group of neurodevelopmental diseases. The identification of …

Neuropathic pain is a frequent feature of diabetic peripheral neuropathy (DPN) and small
fiber neuropathy (SFN). Resolving the genetic architecture of these painful neuropathies will …

Previous studies suggested that severe epilepsies, eg, developmental and epileptic
encephalopathies (DEEs), are mainly caused by ultra-rare de novo genetic variants. For …

Abstract Pitt Hopkins Syndrome (PTHS) is a rare syndromic form of autism spectrum disorder
(ASD) caused by autosomal dominant mutations in the Transcription Factor 4 (TCF4) gene …

Voltage-gated sodium channels are essential for excitability of skeletal muscle fibres and
neurons. An increasing number of disabling or fatal paediatric neurological disorders linked …

Genetic generalized epilepsy (GGE) including childhood absence epilepsy, juvenile
absence epilepsy, juvenile myoclonic epilepsy (JME), and GGE with tonic–clonic seizures …