Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype

Epilepsia. 2017 Jul;58(7):1301-1302. doi: 10.1111/epi.13794.

Authors

Kathleen M Gorman¹, Eva Forman¹, Judith Conroy², Nicholas M Allen³, Amre Shahwan¹, Sally A Lynch^{2

4}, Sean Ennis², Mary D King^{1

2}

Affiliations

¹ Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.
² Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
³ Department of Paediatrics, National University of Ireland Galway and Galway University Hospital, Galway, Ireland.
⁴ Department of Clinical Genetics, Children's University Hospital, Dublin, Ireland.

PMID: 28677859
DOI: 10.1111/epi.13794

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Cell Cycle Proteins / genetics*
Chromosomal Proteins, Non-Histone / genetics*
Disease Progression
Epilepsy / etiology
Epilepsy / genetics*
Female
Genetic Variation / genetics*
Humans
Phenotype
Seizures / complications
Seizures / genetics*

Substances

Cell Cycle Proteins
Chromosomal Proteins, Non-Histone
structural maintenance of chromosome protein 1