Corrigendum: Intrafamilial variability in -related neurodevelopmental disorders.

[This corrects the article DOI: 10.3389/fnins.2023.

Intrafamilial variability in -related neurodevelopmental disorders.

Introduction: Phenotypic spectrum of -related neurodevelopmental disorders (-NDD) includes intellectual disability (ID), autistic spectrum disorders (ASD), epilepsy, developmental delay, beginning from early infancy or after seizure onset, and other neurological features such as hypotonia and movement disorders. Data on familial phenotypic heterogeneity have been rarely reported, thus in our study we aimed to investigate intrafamilial phenotypic variability in families with variants.

Methods: We collected clinical, laboratory and genetic data on 39 individuals, including 17 probands, belonging to 13 families harboring inherited variants of .

Celia's Encephalopathy (-Gene-Related): Current Understanding.

Seipin, encoded by the gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive encephalopathy, with a poor prognosis during childhood. The latter, Celia's encephalopathy, which may or may not be associated with generalized lipodystrophy, is caused by the c.

[Transition from child to adult epilepsy. Difficulties with an objective that cannot be delayed].

Paediatric care of a chronic process is limited by the moment when the clinical and therapeutic follow-up must be continued by a specialist from the area for adults. The delay in the transition from paediatrics to adult medicine can be due to causes attributable to the patient or his/her relatives, or the professional who diagnosed the disease. The former arises from the uncertainty of facing the unknown, which becomes more intense when the diagnosis and treatment have been difficult, as there is a fear of upsetting the stability of the patient.

Pseudotumor cerebri in kaposiform lymphangiomatosis: a case report and pathogenetic hypothesis.

Case Report: A 4-year-old boy with kaposiform lymphangiomatosis (KLA) developed progressive headaches and papilloedema and was diagnosed with pseudotumor cerebri initially treated with acetazolamide. Clinical deterioration prompted placement of a ventriculoperitoneal shunt. After the surgery, the child's condition has markedly improved.