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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.

Brain-specific serine/threonine kinase (BRSK1; synapses of amphids defective [SAD]-B) encodes an AMP-activated protein kinase (AMPK)-related serine/threonine kinase required for neuronal polarization and synaptic function. An individual with a variant in BRSK1 was identified in the Texome Project, which provides genomi...

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.

Bone morphogenetic protein receptor type 2 (BMPR2) encodes an evolutionarily conserved serine/threonine kinase that phosphorylates type-1 BMP receptors to mediate intercellular communication upon ligand binding. Loss-of-function variants in BMPR2 are known to cause pulmonary arterial hypertension and other cardiovascul...

Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al. · 0 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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