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DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene
- Source :
- Seizure. 56
- Publication Year :
- 2017
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Brain Diseases
Epileptic encephalopathy
Encephalopathy
Brain
General Medicine
Biology
medicine.disease
03 medical and health sciences
Epilepsy
Mutagenesis, Insertional
030104 developmental biology
DNM1
Phenotype
Neurology
Child, Preschool
medicine
Atypical phenotype
Humans
Female
Neurology (clinical)
Gene
Dynamin I
Subjects
Details
- ISSN :
- 15322688
- Volume :
- 56
- Database :
- OpenAIRE
- Journal :
- Seizure
- Accession number :
- edsair.doi.dedup.....06a33dd82dcfeb15d3ad35ed099e0d25