Kevin Jones's research while affiliated with McMaster University and other places
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Publications (10)
Background:
SLC13A5 related developmental and epileptic encephalopathy (DEE) is an autosomal recessive condition characterized by neonatal seizures, fever sensitivity, status epilepticus, developmental delay and tooth anomalies. The neuroimaging spectrum of SLC13A5 related DEE is not fully known. We present a case of SLC13A5 related DEE with disti...
Purpose
To investigate the utility of Low Density (LD) Electrical Source Imaging (ESI) to model the ictal onset zone (IOZ) for the surgical work up of children with medically refractory epilepsy.
Methods
This was a retrospective review of 12 patients from a district and regional pediatric epilepsy center, who underwent focal resections between 201...
Purpose
To further define the epilepsy phenotype in a cohort of children with 15q13.3 microdeletion syndrome.
Methods
We retrospectively reviewed the phenotypic spectrum of all children aged < 18 years with epilepsy and 15q13.3 microdeletion syndrome.
Results
Thirteen children were included, 69% were female. The median age of children in the coho...
Objective:
To synthesize the available evidence examining the efficacy and safety of levetiracetam compared with phenytoin or fosphenytoin in benzodiazepine-refractory pediatric status epilepticus.
Data sources:
We searched (from inception until April 27, 2020) Ovid MEDLINE, EMBASE, Web of Science, and Cochrane Central Register of Controlled Tri...
Purpose:
This study evaluated the sensitivity of nonconvulsive seizure detection by non-neurophysiologist physicians and nurses using a panel of quantitative EEG (QEEG) trends in the setting of a pediatric intensive care unit.
Methods:
Forty-five 1-hour QEEG epochs were obtained retrospectively from 10 patients admitted to the McMaster Children'...
Typically, the amount of daily carbohydrate in the Modified Atkins diet (MAD) is restricted to 10–20 g from the beginning of the therapy. It is possible to gradually reduce the daily carbohydrate amount to this target to increase acceptability of the diet. We report the use of the MAD with slow carbohydrate reduction in a patient with Glucose Trans...
Objective:
Focal cortical dysplasia (FCD) is a common cause of refractory, focal onset epilepsy in children. Interictal, scalp electroencephalograph (EEG) markers have been associated with these pathologies and epilepsy surgery may be an option for some patients. We aim to study how scalp EEG and magnetic resonance imaging (MRI) markers of FCD aff...
Background
WARS2 encodes a tryptophanyl tRNA synthetase, which is involved in mitochondrial protein synthesis. Biallelic mutations in WARS2 are rare and have been associated with a spectrum of clinical presentations, including neurodevelopmental disorder with abnormal movements, lactic acidosis with or without seizures (NEMMLAS).
Case Presentation...
A male neonate presented with seizures at 18 hours of life, characterized by tonic posturing with eye deviation to the right, apnoea, bradycardia, and oxygen desaturation. Initial structural, metabolic, and infectious work-up was unremarkable. He continued to have seizures refractory to a variety of antiepileptic medications. A phenobarbital coma w...
Citations
... Source analysis with the 10/20 system is well-established procedure. Numerous papers point that the accuracy of source imaging increases with the number of EEG electrodes, high-density EEG settings being preferrable ( Michel and Brunet, 2019 ;Michel and He, 2019 ;Nguyen-Danse et al., 2021 ;Song et al., 2015 ;Thurairajah et al., 2021 ). However, a high sensor density is not always possible or desirable and different studies support the use of the 10/20 system for the estimation of EEG sources. ...
... Two studies about SE in patients with deletion of 15q13.3 were included. Four patients with SE were identified: two of them developed ESES [65,66], two experienced absence SE and one had focal to bilateral CSE [65]. Age at SE onset ranged between 3 and 7 years of age. ...
... Contattare il 118 se non c'è interruzione della crisi dopo 3 minuti dalla somministrazione del farmaco e/o ripresa dello stato di coscienza. . Una recente metanalisi ha sintetizzato i risultati degli RCT disponibili (inclusi i tre maggiori trial multicentrici: ConSEPT, ESETT ed EcLIPSE) esaminando l'efficacia e la sicurezza di levetiracetam vs fenitoina nel CSE non responsivo alle BDZ e analizzando, in particolare, tre principali outcome: tempo intercorso tra l'intervento e la cessazione della crisi (minuti), risoluzione precoce della crisi (entro 20-40 minuti dall'intervento) e cessazione tardiva della crisi (entro 1-3 ore dall'intervento) [18][19][20]. Levetiracetam e fenitoina hanno mostrato pari efficacia e la scelta tra l'uno e l'altro va contestualizzata rispetto alla storia del paziente (eventuale assunzione di altri farmaci, eziologia), e alla situazione assistenziale. Un recente RCT che ha analizzato l'efficacia del levetiracetam nei confronti della fenitoina e dell'acido valproico (in una popolazione mista di adulti e bambini) ha concluso, come lo studio precedente, per una non superiorità fra i tre farmaci relativamente alla risoluzione della crisi e al ritorno a un normale stato di coscienza a 60 min dall'infusione [21]. ...
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... [27][28][29][30] While two studies focused on critically ill children post-cardiac arrest, 27,29 the other three evaluated the general pediatric critical care population at risk for nonconvulsive seizures. 28,30,31 Only one of these is a prospective study with real-time seizure detection at the bedside. 30 These studies varied significantly in their design, educational approach, testing strategies, and measures of performance but agreed that critical care providers (non-EEG experts) can use spectrograms to identify seizures with acceptable sensitivity and specificity with standardized training (Table 3 and Fig. 3). ...
... A total of 19 mt-ARSs have been described; they all have been linked to human mitochondrial diseases with a broad range of clinical manifestations [2]. Recently, biallelic pathogenic variants in WARS2 (OMIM *604733) encoding the tryptophanyl mt-ARSs (mtTrpRS) have been reported in 16 individuals with neonatal or infantile-onset disease presenting with phenotypes ranging from intellectual disability [3], to infantile parkinsonism [4][5][6], leukoencephalopathy [7,8], complex hyperkinetic disorder [9], and neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [10]. ...
... It might be conceivable that mutations located in "hot zones" involving the abovementioned interaction domains affect negatively response to KD. Furthermore, some KCNQ2 variants have been demonstrated to cause an improper channel localization in addition to causing a reduction in Kv7-associated current (4) and this has been suggested as an explanation to the variable response to specific treatments, including KD. A recent preclinical in vitro study described molecular mechanisms besides the response to KD in the first missense lossof-function pathogenic variant described within the S4 segment of Kv7.3, suggesting that the type and location of mutation predicts the response to specific treatments (22). ...
