Epilepsy with eyelid myoclonia with atonic seizures and generalized paroxysmal fast activity: A novel electroclinical phenotype associated with SETD1B pathogenic variant

Vanessa Hwee Ling Ng; Francesca Hart; Kavitha Kothur; Michael Buckley; Clare Harb; Deepak Gill

doi:10.1002/epd2.20187

Epilepsy with eyelid myoclonia with atonic seizures and generalized paroxysmal fast activity: A novel electroclinical phenotype associated with SETD1B pathogenic variant

Epileptic Disord. 2024 Apr;26(2):250-253. doi: 10.1002/epd2.20187. Epub 2024 Feb 12.

Authors

Vanessa Hwee Ling Ng¹, Francesca Hart², Kavitha Kothur^{1

3

4}, Michael Buckley², Clare Harb¹, Deepak Gill^{1

3

4}

Affiliations

¹ TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
² NSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia.
³ University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁴ Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

PMID: 38108116
DOI: 10.1002/epd2.20187

No abstract available

Keywords: Epilepsy with Eyelid Myoclonia; Etiology: genetic disorder; Localization: not applicable; Phenomenology: atonic seizure (drop attack), head deviation, staring; Syndrome: Jeavons syndrome.

Publication types

Case Reports

MeSH terms

Electroencephalography
Epilepsy* / genetics
Epilepsy, Absence*
Epilepsy, Generalized* / genetics
Eyelids / pathology
Histone-Lysine N-Methyltransferase / genetics
Humans
Myoclonus* / genetics
Phenotype
Seizures / genetics

Substances

SETD1B protein, human
Histone-Lysine N-Methyltransferase