Alessia Micalizzi

TL;DR: Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique Cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign.

TL;DR: In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history, neuro-imaging, laboratory investigations, genetic testing by array CGH and Next Generation Sequencing (NGS).

TL;DR: This case expands the IRF2BPL phenotypic spectrum, for the first time providing evidence of endolysosomal storage, in a female child carrying a novel heterozygous truncating variant in IRF 2BPL.

TL;DR: Larger investigations will better define the prevalence of epilepsy, the epileptic phenotype, and syndromic features underlying GRIA3 variants, as knowledge on the electro-clinical and molecular spectrum of GRia3 variants is expanded.

TL;DR: The most common causative gene was CASK, which accounted for nearly half cases (45%) and was mutated in females and occasionally in males as mentioned in this paper, while the European founder mutation pAla307Ser in TSEN54 and pathogenic variants in EXOSC3 accounted for 18% and 9% of cases, respectively.