Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors

Picard, Fabienne; Pegna, Alan J.; Arntsberg, Venke; Lucas, Nadia; Kaczmarek, Izabela; Todica, Olga; Chiriaco, Carmelina; Seeck, Margitta; Brodtkorb, Eylert

doi:10.1016/j.yebeh.2008.11.003

Cited by 31 publications

(37 citation statements)

References 37 publications

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“…and T265I, as well as S248F [16]. Like the current study, verbal learning impairments have been identified previously in patients with ADNFLE.…”

Section: Discussionsupporting

confidence: 86%

“…Patients with ADNFLE performed more poorly on the object alternation phase of the set-shifting paradigm, using almost twice as many attempts to learn the rule to criterion than controls ( Fig. 1) (t [16] = À2.12, P = 0.05). Performance was characterized by variability in rule learning, reflected by an almost threefold increase in error rate (t [16] = À2.33, P = 0.03).…”

Section: Performance By the Groups On Frontal Lobe Measuresmentioning

confidence: 96%

“…1) (t [16] = À2.12, P = 0.05). Performance was characterized by variability in rule learning, reflected by an almost threefold increase in error rate (t [16] = À2.33, P = 0.03). The pattern of results reflects the participants' difficulty in modifying their erroneous responses to this complex and cognitively challenging task, which relies on the ability to shift and factor in feedback on a trial-by-trial basis.…”

Section: Performance By the Groups On Frontal Lobe Measuresmentioning

confidence: 99%

“…The majority of mutations have been found in CHRNA4. Patients with ADNFLE experience clusters of nocturnal seizures arising from the frontal lobes [14], and reduced right prefrontal receptor density and hypometabolism are observed on PET [16]. The frontal lobe aspects of the disorder raise the possibility that associated cognitive dysfunction may be observed.…”

Section: Introductionmentioning

confidence: 99%

“…Research on a pair of monozygotic twins with a mutation of the b2 nAChR found impaired verbal memory abilities [17]. Recent data on a group of 11 patients with known nAChR subunit mutations (three CHRNA4 and one CHRNB2 mutation) [16] showed impaired memory and executive function as well as impaired intellectual abilities in 5 patients.…”

Section: Introductionmentioning

confidence: 99%

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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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“…and T265I, as well as S248F [16]. Like the current study, verbal learning impairments have been identified previously in patients with ADNFLE.…”

Section: Discussionsupporting

confidence: 86%

Section: Performance By the Groups On Frontal Lobe Measuresmentioning

confidence: 96%

Section: Performance By the Groups On Frontal Lobe Measuresmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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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The Sleep Manifestations of Frontal Lobe Epilepsy

Derry

2011

Curr Neurol Neurosci Rep

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Frontal lobe seizures have a tendency to occur from sleep, and in some cases occur exclusively (or almost exclusively) from sleep; these individuals are said to have nocturnal frontal lobe epilepsy (NFLE). NFLE can be difficult to distinguish clinically from various other sleep disorders, particularly parasomnias, which also present with paroxysmal motor activity in sleep. Here, the manifestations of frontal lobe epilepsy are reviewed in detail, with particular reference to the influence of sleep and the characteristics of NFLE. Key aspects of differential diagnosis are also considered, and the underlying mechanisms involved in NFLE discussed.

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Autosomal Dominant Nocturnal Frontal Lobe and Nocturnal Frontal Lobe Epilepsy as System Epilepsies of the Ascending Cholinergic Arousal System

Halász¹,

Szücs²

2018

Sleep, Epilepsies, and Cognitive Impairment

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Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors

Cited by 31 publications

References 37 publications

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

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

The Sleep Manifestations of Frontal Lobe Epilepsy

Autosomal Dominant Nocturnal Frontal Lobe and Nocturnal Frontal Lobe Epilepsy as System Epilepsies of the Ascending Cholinergic Arousal System

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