Phenotypic spectrum of SETD1B-related disorder: Myoclonic absence seizures and concurrent intellectual disability - Insights from two cases

Seizure. 2024 Jan:114:57-60. doi: 10.1016/j.seizure.2023.11.021. Epub 2023 Nov 29.

Authors

Ravindu Tiwari¹, Lakshminarayanpuram Gopal Viswanathan¹, Ravindranadh Mundlamuri Chowdary¹, Raghavendra Kenchaiah¹, Ajay Asranna¹, Sanjib Sinha²

Affiliations

¹ Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
² Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India. Electronic address: [email protected].

PMID: 38048716
DOI: 10.1016/j.seizure.2023.11.021

No abstract available

Keywords: Absence epilepsy; Myoclonic absence seizures; Neurodevelopmental disorders; SETD1B.

Publication types

Case Reports

MeSH terms

Epilepsies, Myoclonic* / complications
Epilepsies, Myoclonic* / diagnosis
Epilepsies, Myoclonic* / genetics
Humans
Intellectual Disability* / complications
Intellectual Disability* / genetics
Phenotype
Seizures / complications

Substances

SETD1B protein, human