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Bart P C on Muck Rack

Bart P C

As seen in: Color Research & Application, Oxford Academic
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Articles

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability

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By Van Beusekom, van de Warrenburg, Bart P C, Nadif Kasri
| Oxford Academic Verified
Haploinsufficiency of the CACNA1A gene, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia, to neurodevelopmental syndromes with epilepsy and intellectual disability.
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Ataxia-telangiectasia: recommendations for multidisciplinary treatment

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By Nienke J H, Imelda J M, Bart P C
| Color Research & Application Verified
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics.
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