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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Hugo J. Bellen

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Sep 2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

The data support a model that heterozygous loss of BRSK1 leads to a neurodevelopmental syndrome with variable phenotypes and indicates that the three individual-derived alleles provide only a partial rescue and fail to normalize NMJ morphology and Futsch levels, suggesting that they are partial loss-of-function alleles...

Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al. · 0 citations
Sep 2026

A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.

A rare recurrent missense variant in BMPR2 identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay, is reported and shows that this variant causes neurodevelopmental defects in flies when expressed in neurons or glial cells.

Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al. · 2 citations
Open access Jul 2026

Epilepsy-associated digenic variants affecting an actin/mitochondria/glutamate pathway promote seizure susceptibility

The AMG pathway is established as a mechanistic framework for identifying digenic etiologies in epilepsy and highlight potential therapeutic targets after it was demonstrated that reduced actin polymerization promoted DRP1-mediated mitochondrial fission, increased ROS levels, and enhanced glutamatergic transmission, le...

Shenzhao Lu, Mengqi Ma, Shabab B. Hannan et al. · 0 citations
Open access Jul 2026

Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder

The findings implicate DCLK1 in a previously unrecognized progressive neurodevelopmental disorder and demonstrate the power of integrative cross-species functional genomics in resolving ultra-rare disease variants.

David F. Butler, Wei-Xi Yuan, Hirokazu Hashimoto et al. · 0 citations

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