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Our purpose was to determine the role of CHRNA4 and CHRNB2 in insular epilepsy.
We identified two patients with drug-resistant predominantly sleep-related hypermotor seizures, one harboring a heterozygous missense variant (c.77C>T; p. Thr26Met) in the CHRNB2 gene and the other a heterozygous missense variant (c.1079G>A; p. Arg360Gln) in the CHRNA4 gene. The patients underwent electrophysiological and neuroimaging studies, and we performed functional characterization of the p. Thr26Met (c.77C>T) in the CHRNB2 gene.
We localized the epileptic foci to the left insula in the first case (now seizure-free following epilepsy surgery) and to both insulae in the second case. Based on tools predicting the possible impact of amino acid substitutions on the structure and function of proteins (sorting intolerant from tolerant and PolyPhen-2), variants identified in this report could be deleterious. Functional expression in human cell lines of α4β2 (wild-type), α4β2-Thr26Met (homozygote), and α4β2/β2-Thr26Met (heterozygote) nicotinic acetylcholine receptors revealed that the mutant subunit led to significantly higher whole-cell nicotinic currents. This feature was observed in both homo- and heterozygous conditions and was not accompanied by major alterations of the current reversal potential or the shape of the concentration-response relation.
This study suggests that variants in CHRNB2 and CHRNA4, initially linked to autosomal dominant nocturnal frontal lobe epilepsy, are also found in patients with predominantly sleep-related insular epilepsy. Although the reported variants should be considered of unknown clinical significance for the moment, identification of additional similar cases and further functional studies could eventually strengthen this association.
To ensure the overall quality of our electroencephalogram (EEG) laboratory, we decided to perform an audit of EEGs interpreted at our institution, focusing initially on EEGs reporting temporal abnormalities.
Reports of all EEGs performed between January 1st and June 30th, 2006 were reviewed in order to identify tracings mentioning abnormalities in the temporal regions. These records were then independently reviewed by two epileptologists on two distinct occasions, separated by an interval of at least six months. If the recording was considered normal after this process, the cause for misinterpretation was identified and the patient's chart was reviewed to determine if he was epileptic or not based on available evidence until June 2009.
In the first half of 2006,143 out of 773 EEGs mentioned temporal abnormalities (18.5%). In general, intra- and interrater agreement ratios between our two epileptologists were moderate to substantial for normality, presence of epileptic activity and presence of slowing. Forty-five recordings (31.5%) were reported as normal independently by them on two distinct sittings six months apart. The most common causes for misinterpretation were the presence of benign epileptiform variants, normal sharply contoured patterns of somnolence or hyperventilation. Chart review confirmed that most were non-epileptic patients (60% non-epileptic, 27% epileptic, 13% unknown).
Moderate to substantial intra- and interrater agreement as well as frequent misinterpretation of physiological variants indicate that some corrective measures need to be implemented to improve the consistency of EEG interpretation amongst our group of electroencephalographers.
Recently a high prevalence of asystole was found in individuals with refractory epilepsy.
To measure the prevalence and characterize the pattern of ictal bradycardia (IB) in our cohort.
We analyzed ictal heart rate (HR) and seizure localization in 69 consecutive individuals with intractable epilepsy. Ictal bradycardia was defined by HR less than 60 beat per min (bpm) and a fall of more than 30 bpm.
Ictal bradycardia was observed in 1.9% of seizures and in five individuals (7.2%), who presented IB in 5.7% of their seizures. Four of them had also relative IB (a decrease of HR of more than10 bpm) in the majority of their seizures. Four additional individuals showed relative IB.
Ictal bradycardia occurs more frequently than previously thought in individuals with refractory epilepsy. Recognition of individuals with small to moderate ictal HR decrease may help to identify those at greatest risk for asystole.
The most common cause of autosomal dominant Hereditary Spastic Paraplegia (HSP) is mutations in the SPG4 gene. We have previously identified novel SPG4 mutations in a collection of North American families including the c.G1801A mutation present in two families from Quebec. The aim of this study is to estimate the frequency of the c.G1801A mutation in the French Canadian (FC) population and to determine whether this mutation originates from a common ancestor.
We collected and sequenced exon 15 in probands of 37 families. Genotypes of markers flanking the SPG4 gene were used to construct haplotypes in five families. Clinical information was reviewed by a neurologist with expertise in HSP.
We have identified three additional unrelated families with the c.G1801A mutation and haplotype analysis revealed that all five families share a common ancestor. The mutation is present in 7% of all our FC families and explains half of our spastin linked FC families. The phenotype associated with the c.G1801A genotype is pure HSP with bladder involvement.
In this study we have determined that the relative frequency of the c.G1801A mutation in our FC collection is 7%, and approximately 50% in the spastin positive FC group. This mutation is the most common HSP mutation identified in this population to date and is suggestive of a founder effect in Quebec.
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