download software arteries du cerveau pdf to jpg

The clinical overlap between these two syndromes suggests that they belong to a spectrum of KCNH1 -related encephalopathies.

Affected patients have severe intellectual disability (ID) with or without epilepsy, hypertrichosis and distinctive features such as gingival hyperplasia and nail hypoplasiaaplasia (present in 2023 reported cases).

Four of these variants, p.(Thr294Met), p.(Ala492Asp), p.(Thr493Asn) and p.(Gly496Arg), were located in the transmembrane domains S3 and S6 of Kv10.1 and one, p.(Arg693Gln), in its C-terminal cyclic nucleotide-binding homology domain (CNBHD).

Clinical reappraisal by the referring clinical geneticists confirmed the absence of the distinctive gingival and nail features of TBSZLS.

Our study expands the phenotypical spectrum of KCNH1 -related encephalopathies to individuals with an attenuated extraneurological phenotype preventing a clinical diagnosis of TBS or ZLS.

This subtype may be related to recurrent substitutions of the Gly496, suggesting a genotypephenotype correlation and, possibly, to variants in the CNBHD domain.

Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

Supplemental material This content has been supplied by the author(s).

It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed.

Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ.

BMJ disclaims all liability and responsibility arising from any reliance placed on the content.

Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error andor omissions arising from translation and adaptation or otherwise.

Download Software Arteries Du Cerveau Pdf To Jpg