Cockayne syndrome is a progressive multisystem disorder characterized by a specific
cellular defect in transcription-coupled repair. Typical features include developmental delay …

Objective γ‐Aminobutyric acid (GABA) A‐receptor subunit variants have recently been
associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in
the majority of patients and results in impaired glucose transport into the brain. From 2004 …

Cockayne syndrome is an autosomal recessive multisystem disorder characterized
principally by neurological and sensory impairment, cachectic dwarfism, and …

Laboratory diagnosis for DNA repair diseases has been performed in western Europe from
the early seventies for xeroderma pigmentosum (XP) and from the mid-eighties for …

Myotubularin is a ubiquitously expressed phosphatase that acts on phosphatidylinositol 3-
monophosphate [PI (3) P], a lipid implicated in intracellular vesicle trafficking and autophagy …

While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two
most frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the …

Background: An accurate estimation of the risk of life-threatening (LT) ventricular
tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for …

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function
mutations in the survival motor neuron 1 gene, which results in a broad range of disease …