Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor

Cho, Yong Won; Yi, Sang-Doe; Lim, Jeong‐Geun; Kim, Dae-Kwang; Motamedi, Gholam K.

doi:10.1016/j.yebeh.2008.04.017

Cited by 25 publications

(11 citation statements)

References 8 publications

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“…(2002) reported memory impairment in patients with FLE of a comparable severity to that in patients with TLE for immediate and delayed recall of visual and verbal items. Memory impairment has also been reported in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) where all but one patient were found to be impaired on at least one memory measure, and for four patients the memory impairment was found to be more severe than executive dysfunction (Cho et al., 2008; Picard et al., 2009).…”

Section: Discussionmentioning

confidence: 85%

Memory in frontal lobe epilepsy: An fMRI study

et al. 2012

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Summary Purpose: Focal epilepsies are often associated with structural and functional changes that may extend beyond the area of seizure onset. In this study we investigated the functional anatomy of memory in patients with frontal lobe epilepsy (FLE), focusing on the local and remote effects of FLE on the networks supporting memory encoding. Methods: We studied 32 patients with drug‐resistant FLE and 18 controls using a functional magnetic resonance imaging (fMRI) memory encoding paradigm. Key Findings: During encoding of stimuli, patients with FLE recruited more widely distributed areas than healthy controls, in particular within the frontal lobe contralateral to the seizure onset. Normal memory performance was associated with increased recruitment of frontal areas, and conversely a poor performance was associated with an absence of this increased recruitment and decreased activation in mesial temporal lobe areas. Significance: In patients with FLE, recruitment of wider areas, particularly in the contralateral frontal lobe, appears to be an effective compensatory mechanism to maintain memory function. Impaired hippocampal activation is relatively rare and, in turn, associated with poor recognition memory.

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Section: Discussionmentioning

confidence: 85%

Memory in frontal lobe epilepsy: An fMRI study

et al. 2012

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“…The latter had significant impairments of general intellectual skills and other aspects of verbal functions. Further, a mother and daughter with a CHRNB2 mutation and relatively intact intellectual skills [32] showed memory impairments, as well as set shifting difficulties. In the group studied here, verbal learning, audioverbal span, and working memory performances were correlated with disease and/or treatment variables, preventing, or rendering less likely, a direct causal link between these measures and mutations in ADNFLE.…”

Section: Discussionmentioning

confidence: 99%

Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy

Wood¹,

Saling²,

Fedi³

et al. 2010

Epilepsy & Behavior

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a b s t r a c tAutosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a nonlesional condition associated with mutation of the gene coding for the a4 nicotinic acetylcholine receptor (nAChR). The nAChR modulates aspects of memory and attention. We examined the neuropsychological phenotype of ADNFLE, with a particular emphasis on understanding the impact on frontal lobe functions. We used standard clinical tests as well as focused measures of frontal lobe function in a well-defined group of patients with ADN-FLE. Their performance was compared with that of a group of age-, sex-, and education-matched control participants. Patients with ADNFLE showed impairments on tasks requiring cognitive flexibility against a background of well-preserved intellectual abilities. In accord with existing research, verbal memory impairments were identified in the patient group; the level of impairment on these tasks correlated with disease-related factors. In our study of ADNFLE associated with one mutation, cognitive flexibility appears to be the core cognitive deficit.Crown

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“…In particular, a second locus was identified at chromosome 15q24 in one family [38] and a third locus spanning the pericentromeric region of chromosome 1 was identified in an Italian ADNFLE family [39], the latter containing the gene coding for the β2 subunit of the nACh receptor (CHRNB2) ( Table 1) [40]. Further CHRNB2 mutations were disclosed in different unrelated families and one sporadic case [41][42][43][44][45][46] (Table 1); in two families a coexistence of both epilepsy and specific deficits in tasks of verbal memory was observed [44,45]; in two patients ictal single-photon emission computed tomography showed a significant hyperperfusion of the cingulated gyrus [45].…”

Section: Genetic Forms Of Nflementioning

confidence: 99%

Nocturnal Frontal Lobe Epilepsy

Nobili

Proserpio

Combi

et al. 2014

Curr Neurol Neurosci Rep

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Nocturnal frontal lobe epilepsy (NFLE) is a syndrome of heterogeneous etiology, characterized by the occurrence of sleep-related seizures with different complexity and duration. Genetic, lesional, and cryptogenetic NFLE forms have been described. NFLE is generally considered a benign clinical entity, although severe, drug-resistant forms do exist. A significant proportion of sleep-related complex motor seizures, hardly distinguishable from NFLE, originate outside the frontal lobe. Moreover, the distinction of NFLE from the non-rapid eye movement arousal parasomnias may be challenging. A correct diagnosis of NFLE should be based on a diagnostic approach that includes the anamnestic, video-polysomnographic, morphological, and genetic aspects. Studies on the relationships between genes, arousal regulatory mechanisms, and epileptogenesis, using both clinical and experimental models of NFLE might provide key insights in the interrelationship between sleep and epilepsy.

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Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor

Cited by 25 publications

References 8 publications

Memory in frontal lobe epilepsy: An fMRI study

Memory in frontal lobe epilepsy: An fMRI study

Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy

Nocturnal Frontal Lobe Epilepsy

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