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consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far, .  et al. 0

biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia

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consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far, .  et al. 0

biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia

recurrent infections and feeding difficulties. Degenerative features included early regression, .  et al. 0

acquired microcephaly and cerebral atrophy. Brain MRI revealed bilateral periventricular heterotopia

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especially among IHPRF1-affected individuals, .  et al. 0

and discuss differences between the IHPRF1- and IHPRF2 phenotypes. In summary

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CACNA1A and CACNA2D2).", .  et al. 0

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epilepsy gene panel