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Journal of Pediatric Epilepsy 2023; 12(04): 130-134
DOI: 10.1055/s-0043-1768657
Case Report

Cerebellar Atrophy and Epilepsy in Twins with a Novel SCN8A Mutation

1   Clinic of Child Neurology, MHATNP “St. Naum,” Sofia, Bulgaria
2   Department of Neurology, Medical University of Sofia, Sofia, Bulgaria
,
Asya Asenova
1   Clinic of Child Neurology, MHATNP “St. Naum,” Sofia, Bulgaria
2   Department of Neurology, Medical University of Sofia, Sofia, Bulgaria
,
Tihomir Todorov
3   Genetic and Medico-Diagnostic Laboratory “GENICA,” Sofia, Bulgaria
,
Slavena Atemin
3   Genetic and Medico-Diagnostic Laboratory “GENICA,” Sofia, Bulgaria
4   Department of Medical Chemistry and Biochemistry, Medical University of Sofia, Sofia, Bulgaria
,
Ales Maver
5   Clinical Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia
,
Borut Peterlin
5   Clinical Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia
,
Vanio Mitev
4   Department of Medical Chemistry and Biochemistry, Medical University of Sofia, Sofia, Bulgaria
,
Albena Todorova
3   Genetic and Medico-Diagnostic Laboratory “GENICA,” Sofia, Bulgaria
4   Department of Medical Chemistry and Biochemistry, Medical University of Sofia, Sofia, Bulgaria
,
Veneta Bojinova
1   Clinic of Child Neurology, MHATNP “St. Naum,” Sofia, Bulgaria
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