Background Diagnostic trajectories for neurogenetic disorders frequently require the use of
considerable time and resources, exposing patients and families to so-called “diagnostic …

Neurocognitive research on social concepts underscores their reliance on fronto-temporo-limbic
regions mediating broad socio-cognitive skills. Yet, the field has neglected another …

… Rodríguez-Quiroga: drafting/revising the manuscript, study concept or design, analysis or
interpretation of data, accepts responsibility for conduct of research and final approval, …

Intellectual disability (ID) is a common neurodevelopmental disorder that involves impairments
of general mental abilities that impact adaptive functioning (1). Noteworthy advances in …

… HMS is characterized by involuntary movements, consisting of brief twitches and/or
spasms, resembling cramps. It is considered a disorder of the motor branch of the trigeminal …

… Due to the small size of the series, it is not correct to suggest a frequency of re-analysis as
a … Our series is heterogeneous and represents a wide variety of DEEs. We have included …

… It is possible that the neurogenetic disease in some of these patients is caused by a genetic
alteration located in areas not covered by WES or TGP sequencing, such as intronic regions. …

… Given that DCX gene is located on the X chromosome and that our patient had a normal
karyotype (46XY), … To our knowledge, this is the largest NMD series in Latin America reporting a …

… 10 , Sergio Rodriguez-Quiroga …

As a whole neurogenetic diseases are a common group of neurological disorders. However,
the recognition and molecular diagnosis of these disorders is not always straightforward. …