Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …

Spinal and spinal cord malformations are collectively named spinal dysraphisms. They
arise from defects occurring in the early embryological stages of gastrulation (weeks 2–3), …

The characterization of the underlying GALC gene lesions was performed in 30 unrelated
patients affected by Krabbe disease, an autosomal recessive leukodystrophy caused by the …

Genetic defects in myelin formation and maintenance cause leukodystrophies, a group of
white matter diseases whose mechanistic underpinnings are poorly understood 1 , 2 . …

Introduction: To determine the occurrence of neuroradiological abnormalities and to perform
genotype–phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet …

Spinal cord development occurs through three consecutive periods. Gastrulation (weeks 2–3)
is characterized by conversion of the embryonic disk from a bilaminar to a trilaminar …

Objective: Excessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs).
Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (…

Defects in glycosylation of α-dystroglycan are associated with several forms of muscular
dystrophies. Mutations in POMT2 gene have been identified in patients with congenital …

Background Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the
enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, …

We describe a new autosomal recessive white matter disorder ('hypomyelination and
congenital cataract') characterized by hypomyelination of the central and peripheral nervous …