A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1

Gambardella, Antonio; Annesi, Grazia; Fusco, Maurizio De; Patrignani, A.; Aguglia, Umberto; Annesi, Ferdinanda; Pasqua, Angela Aurora; Spadafora, Patrizia; Oliveri, R. L.; Valentino, Paola; Zappia, Mario; Ballabio, Andrea; Casari, Giorgio; Quattrone, Aldo

doi:10.1212/wnl.55.10.1467

Cited by 86 publications

(59 citation statements)

References 30 publications

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“…The ADNFLE locus ENFL3 was mapped to chromosome 1p21 in a three-generation pedigree from southern Italy (32). The acetylcholine β2 subunit gene had previously been mapped to this location, and molecular analysis identified the amino acid substitution V287L (23).…”

Section: Ligand-gated Acetylcholine Receptorsmentioning

confidence: 99%

Identification of Epilepsy Genes in Human and Mouse

et al. 2001

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The development of molecular markers and genomic resources has facilitated the isolation of genes responsible for rare monogenic epilepsies in human and mouse. Many of the identified genes encode ion channels or other components of neuronal signaling. The electrophysiological properties of mutant alleles indicate that neuronal hyperexcitability is one cellular mechanism underlying seizures. Genetic heterogeneity and allelic variability are hallmarks of human epilepsy. For example, mutations in three different sodium channel genes can produce the same syndrome, GEFS+, while individuals with the same allele can experience different types of seizures. Haploinsufficiency for the sodium channel SCN1A has been demonstrated by the severe infantile epilepsy and cognitive deficits in heterozygotes for de novo null mutations. Large-scale patient screening is in progress to determine whether less severe alleles of the genes responsible for monogenic epilepsy may contribute to the common types of epilepsy in the human population. The development of pharmaceuticals directed towards specific epilepsy genotypes can be anticipated, and the introduction of patient mutations into the mouse genome will provide models for testing these targeted therapies.

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Section: Ligand-gated Acetylcholine Receptorsmentioning

confidence: 99%

Identification of Epilepsy Genes in Human and Mouse

et al. 2001

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“…A 'single gene' trait was identified with linkage to chromosome 20q [Phillips et al 1995]. Further gene loci have been linked to chromosomes 15q24 [Phillips et al 1998] and 1q21 [Gambardella et al 2000]. Mutations in two genes encoding different subunits of the neuronal nicotinic acetylcholine receptors (nAChRs) have been replicated , b-subunit (CHRNB2)].…”

Section: Introductionmentioning

confidence: 99%

Review: Diagnosis and treatment of paroxysmal dyskinesias revisited

Unterberger

Trinka

2008

Ther Adv Neurol Disord

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Paroxysmal dyskinesias (PDs) are a rare group of hyperkinetic movement disorders mainly characterized by their episodic nature. Neurological examination may be entirely normal between the attacks. Three main types of PDs can be distinguished based on their precipitating events -(i) paroxysmal kinesigenic dyskinesias (PKD), (ii) paroxysmal non-kinesigenic dyskinesias (PNKD) and (iii) paroxysmal exercise-induced (exertion-induced) dyskinesias (PED). The diagnosis of PDs is based on their clinical presentation and precipitating events. Substantial progress has been made in the field of genetics and PDs. Treatment options mainly include anticonvulsants and benefit of treatment is depending on the type of PD. Most important differential diagnosis are non-epileptic psychogenic, non-epileptic organic and epileptic attack disorders, especially nocturnal frontal lobe epilepsy.

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“…ADNFLE was quickly recognized as a genetically heterogeneous disorder as most of the described families did not show mutations in the CHRNA4 gene [14,38], and new loci and genes were reported in the following years. 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%

“…Many and early reports documented carbamazepine as the drug of choice in NFLE/ADNFLE patients [11,12,39,99], and basic studies of ADNFLE mutations suggested that mutated nAChR receptors demonstrate an increased sensitivity to carbamazepine [100].…”

Section: Treatmentmentioning

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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A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1

Abstract: The authors provided evidence for a third locus associated to autosomal dominant nocturnal frontal lobe epilepsy on chromosome 1. Among the known genes mapping within this critical region, the ss2 subunit of the nicotinic receptor (CHRNB2) represents the most obvious candidate.

Cited by 86 publications

References 30 publications

Identification of Epilepsy Genes in Human and Mouse

Identification of Epilepsy Genes in Human and Mouse

Review: Diagnosis and treatment of paroxysmal dyskinesias revisited

Nocturnal Frontal Lobe Epilepsy

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