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Open AccessLoss of function mutations in GEMIN5 cause a neurodevelopmental disorder
GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of sp...
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Child with Ataxia
The neurological sign, ataxia, is defined as a disturbance in smooth coordination of movements. While ataxia is usually due to a disturbance in the cerebellum, it can be caused by abnormalities anywhere in the...
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Child with Suspected Autism
Autism spectrum disorder (ASD) is a common heterogeneous neurodevelopmental disorder characterized by impairments in social development along with associated language delays, restrictive interests, and repetit...
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Evolving therapies in neuronopathic LSDs: opportunities and challenges
Lysosomal storage disorders (LSD) are multisystemic progressive disorders caused by genetic mutations involving lysosomal function. While LSDs are individually considered rare diseases, the overall true preval...
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Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis
Pediatric encephalitis has significant morbidity and mortality, yet 50% of cases are unexplained. Host genetics plays a role in encephalitis’ development; however, the contributing variants are poorly understo...
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SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration
GEMIN5 is essential for core assembly of small nuclear Ribonucleoproteins (snRNPs), the building blocks of spliceosome formation. Loss-of-function mutations in GEMIN5 lead to a neurodevelopmental syndrome among p...
