ORCID Profile
0000-0001-6338-0459
Current Organisation
University of Otago Wellington
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Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 19-04-2019
Publisher: Elsevier BV
Date: 08-2019
Publisher: Elsevier BV
Date: 2020
DOI: 10.1016/J.EJPN.2019.12.020
Abstract: PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. PCDH19-GCE presents with clusters of seizures in the first years of life. Although patients typically outgrow their seizures, many are left with intellectual disability. Here we retrospectively assess the effect of levetiracetam in two independent cohorts of females with PCDH19-GCE. Cohort A was identified by searching our epilepsy genetics research database for girls with PCDH19-GCE who had trialled levetiracetam. Cohort B consisted of girls aged 2 years or older, including women, participating in an international online questionnaire. Information regarding seizure frequency and levetiracetam use was obtained by in-person patient interview and review of clinical records for cohort A, and by patient report for cohort B. Cohort A consisted of 17 females, aged 3-37 years, who had a trial of levetiracetam at an average age of 10.7 years. 13/17 females became seizure free for >12 months while 10/17 remained seizure free for >24 months. Cohort B comprised 62 females, aged 1.5-41 years. 26/62 became seizure free for >12 months, and 19/62 for >24 months on levetiracetam therapy. Levetiracetam was effective in two cohorts of females with PCDH19-GCE where 42% and 76% of females became seizure free for >12 months, respectively. Levetiracetam is an effective therapy for females with PCDH19-GCE and should be considered early in the management of the highly refractory clusters of seizures that characterise this genetic disease.
Publisher: Massachusetts Medical Society
Date: 26-04-2018
DOI: 10.1056/NEJMC1714579
Publisher: Proceedings of the National Academy of Sciences
Date: 27-02-2017
Abstract: Phosphorylation catalyzed by protein kinases governs many aspects of cellular behavior. Apoptosis signal-regulating kinases (ASK1–3) trigger responses to stress, but the structural basis of their regulation remains unclear. Here, we show that a domain directly adjacent to the ASK1 kinase domain promotes activity of ASK1 on a key substrate and also orients an additional ASK1 domain nearby to suppress kinase activity. The structure of this regulatory domain appears to be shared by all ASK kinases and provides a versatile mechanism to control ASK activity in response to various stress stimuli.
Publisher: Wiley
Date: 20-10-2019
DOI: 10.1111/EPI.16372
Abstract: Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three children, with onset at 7 days, 11 days, and 4 months. One child presented with convulsive status epilepticus at 6 months. Three children had burst suppression on electroencephalography (EEG), three had hypsarrhythmia, and one evolved from burst suppression to hypsarrhythmia. Background slowing was present in all after age 3 years. Magnetic resonance imaging (MRI) showed cerebral atrophy in one child and cerebellar atrophy in another. All nine had abnormal development prior to seizure onset and ultimately had profound impairment without regression. Hypotonia was present in all, with contractures developing in two older patients. All in iduals had biallelic pathogenic variants in GNB5, predicted by in silico tools to result in protein truncation and loss-of-function. GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment.
No related grants have been discovered for Chontelle King.