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

then, .  et al. 0

for variants from a list of genes known to be associated with CA or very early-onset ataxia

Christodoulou J, .  et al. 0

Clarke AJ

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

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

Elisabeth, .  et al. 0

Jean-Christophe; Franco

CACNA1A and CACNA2D2).", .  et al. 0

, .  et al. 0

Mathieu, .  et al. 0

Laurent; Borgatti

Nathalie, .  et al. 0

Louis; Ville

Spasic-Boskovic O, .  et al. 0

Tejada MI

Sanger sequencing, .  et al. 0

epilepsy gene panel

, .  et al. 0

our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, .  et al. 0

epilepsy and dystonic fits

, .  et al. 0

and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. CONCLUSION: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome., .  et al. 0

Lydia, .  et al. 0

Ana; Barkats

, .  et al. 0

, .  et al. 0

Daniel G., .  et al. 0

John; Clarke