Search Results - "Hallgren, Jodi"
-
1
Progressive cardiorespiratory dysfunction in Kv1.1 knockout mice may provide temporal biomarkers of pending sudden unexpected death in epilepsy (SUDEP): The contribution of orexin
Published in Epilepsia (Copenhagen) (01-03-2020)“…Objective Immediately preceding sudden unexpected death in epilepsy (SUDEP), patients experienced a final generalized tonic‐clonic seizure (GTCS), rapid…”
Get full text
Journal Article -
2
KMT5B is required for early motor development
Published in Frontiers in genetics (12-08-2022)“…Disruptive variants in lysine methyl transferase 5B (KMT5B/SUV4-20H1) have been identified as likely-pathogenic among humans with neurodevelopmental phenotypes…”
Get full text
Journal Article -
3
Respiratory dysfunction progresses with age in Kcna1‐null mice, a model of sudden unexpected death in epilepsy
Published in Epilepsia (Copenhagen) (01-02-2018)“…Summary Objective Increased breathing rate, apnea, and respiratory failure are associated with sudden unexpected death in epilepsy (SUDEP). We recently…”
Get full text
Journal Article -
4
Differential effects by sex with Kmt5b loss
Published in Autism research (01-08-2021)“…Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorders (NDDs), specifically,…”
Get full text
Journal Article -
5
Respiratory dysfunction progresses with age in Kcna1-null mice, a model of sudden death in epilepsy
Published in Epilepsia (Copenhagen) (12-01-2018)Get full text
Journal Article -
6
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Published in Science advances (10-03-2023)“…Pathogenic variants in , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM…”
Get full text
Journal Article