New KCNA1 Gene Variant Linked to Autism Spectrum Disorder and Tremor Shows Complex Effects on Brain Ion Channels
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A newly identified KCNA1 gene variant in a teenager with autism and tremor shows both loss- and gain-of-function effects on brain potassium channels, expanding the known clinical spectrum of KCNA1-related disorders.
DLG4-Related Synaptopathy: Expanding Understanding of Marfan-Like Features in a Rare Neurodevelopmental Disorder
A Brazilian case report highlights the complex symptoms of DLG4-related synaptopathy, a rare neurodevelopmental disorder with marfanoid features and sensory disturbances.
New Genetic Variant in TBL1XR1 Linked to Generalized Dystonia in Adult Patient
A new genetic variant in the TBL1XR1 gene may be linked to generalized dystonia, expanding the known disease spectrum beyond neurodevelopmental disorders like Pierpont syndrome and autism.