(Q35865848)

10 August 2017

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title

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview (English)

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autosomal dominant nocturnal frontal lobe epilepsy

10 August 2017

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4

Luigi Ferini-Strambi

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10 August 2017

2

Leda Dalprà

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10 August 2017

Romina Combi

1

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PubMed ID

15316796

10 August 2017

Maria Luisa Tenchini

series ordinal

3

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10 August 2017

1 August 2004

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10 August 2017

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10 August 2017

251

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10 August 2017

8

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10 August 2017

923-934

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https://scigraph.springernature.com/pub.10.1007/s00415-004-0541-x

10 August 2017

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cites work

The wide clinical spectrum of nocturnal frontal lobe epilepsy.

1 reference

12 December 2020

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

1 reference

12 December 2020

A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions

1 reference

12 December 2020

Beyond Mendel: an evolving view of human genetic disease transmission

1 reference

12 December 2020

Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?

1 reference

12 December 2020

Extracellular Ca2+ depletion contributes to fast activity-dependent modulation of synaptic transmission in the brain

1 reference

12 December 2020

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

1 reference

12 December 2020

Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response

1 reference

12 December 2020

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

12 December 2020

Paroxysmal awakenings from sleep associated with excessive daytime somnolence: a form of nocturnal epilepsy.

1 reference

12 December 2020

Nicotinic receptors in the development and modulation of CNS synapses.

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12 December 2020

Sodium-channel defects in benign familial neonatal-infantile seizures

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12 December 2020

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

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12 December 2020

Nicotine as an antiepileptic agent in ADNFLE: an N-of-one study.

1 reference

12 December 2020

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

1 reference

12 December 2020

Neuronal nicotinic receptors in the human brain

1 reference

12 December 2020

PAROXYSMAL PSYCHOLOGICAL EVENTS AND CERTAIN PHASES OF SLEEP.

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12 December 2020

Nocturnal paroxysmal dystonia and nocturnal wandering

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12 December 2020

Episodic nocturnal wanderings in non-epileptic young patients

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12 December 2020

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

1 reference

12 December 2020

Complex partial seizures of frontal lobe origin

1 reference

12 December 2020

SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.

1 reference

12 December 2020

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

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12 December 2020

1 reference

12 December 2020

Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members.

1 reference

12 December 2020

Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes

1 reference

12 December 2020

An analysis of clinical seizure patterns and their localizing value in frontal and temporal lobe epilepsies.

1 reference

12 December 2020

Episodic nocturnal wanderings responsive to anticonvulsant drug therapy

1 reference

12 December 2020

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

1 reference

12 December 2020

Hypnic tonic postural seizures in healthy children provide evidence for a partial epileptic syndrome of frontal lobe origin.

1 reference

12 December 2020

Epilepsies in twins: genetics of the major epilepsy syndromes.

1 reference

12 December 2020

Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Paroxysmal periodic motor attacks during sleep: clinical and polygraphic features.

1 reference

12 December 2020

Sleep and arousal: thalamocortical mechanisms

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12 December 2020

Nicotinic receptors in circuit excitability and epilepsy

1 reference

12 December 2020

Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review

1 reference

12 December 2020

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

1 reference

12 December 2020

Paroxysmal "nightmares": Sequel of a stroke responsive to diphenylhydantoin

1 reference

12 December 2020

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

1 reference

12 December 2020

A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy

1 reference

12 December 2020

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

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12 December 2020

How mutations in the nAChRs can cause ADNFLE epilepsy

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12 December 2020

Paroxysmal arousals during sleep.

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12 December 2020

Targeting epilepsy genes

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12 December 2020

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

1 reference

12 December 2020

Hypnogenic paroxysmal dystonia: epilepsy or sleep disorder? A case report

1 reference

12 December 2020

REM sleep behavior disorder.

1 reference

12 December 2020

Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors

1 reference

12 December 2020

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

1 reference

12 December 2020

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

1 reference

12 December 2020

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

1 reference

12 December 2020

1 reference

12 December 2020

Sudden arousals from slow-wave sleep and panic disorder.

1 reference

12 December 2020

Magnetization transfer and diffusion-weighted imaging in nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases.

1 reference

12 December 2020

Autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

1 reference

12 December 2020

Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy?

1 reference

12 December 2020

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Neuronal nicotinic acetylcholine receptors: from the gene to the disease

1 reference

12 December 2020

Epileptic nocturnal wanderings

1 reference

12 December 2020

Distribution of mRNA for the alpha4 subunit of the nicotinic acetylcholine receptor in the human fetal brain.

1 reference

12 December 2020

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

1 reference

12 December 2020

Episodic nocturnal wanderings.

1 reference

12 December 2020

Nocturnal paroxysmal dystonia: a clinical form of focal epilepsy

1 reference

12 December 2020

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

1 reference

12 December 2020

Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation

1 reference

12 December 2020

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

12 December 2020

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Identification of acetylcholine receptor channel-lining residues in the entire M2 segment of the alpha subunit.

1 reference

12 December 2020

Nocturnal paroxysmal dystonia

1 reference

12 December 2020

Orbital Frontal Seizures. An Unique Electroencephalographic and Clinical Syndrome*

1 reference

12 December 2020

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy

1 reference

12 December 2020

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

1 reference

12 December 2020

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

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12 December 2020

An epileptic syndrome caused by mesial frontal lobe seizure foci

1 reference

12 December 2020

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

1 reference

12 December 2020

Dominant partial epilepsies: A clinical, electrophysiological and genetic study of 19 European families

1 reference

12 December 2020

Five ADNFLE Mutations Reduce the Ca2+ Dependence of the Mammalian α4β2 Acetylcholine Response

1 reference

12 December 2020

Central cholinergic systems and cognition

1 reference

12 December 2020

Acetazolamide opens the muscular K Ca 2+ channel: A novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis

1 reference

12 December 2020

Genetic factors in epileptic seizures: evidence from a large twin population

1 reference

12 December 2020

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Channelopathies can cause epilepsy in man.

1 reference

12 December 2020

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy

1 reference

12 December 2020

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

1 reference

12 December 2020

Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy

1 reference

12 December 2020

The value of sleep recording in evaluating somnambulism in young adults

1 reference

12 December 2020

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

1 reference

12 December 2020

A potassium channel mutation in neonatal human epilepsy

1 reference

12 December 2020

Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures

1 reference

12 December 2020

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

1 reference

12 December 2020

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

1 reference

12 December 2020

Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture.

1 reference

12 December 2020

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

12 December 2020

Hereditary factors in sleepwalking and night terrors

1 reference

12 December 2020

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

1 reference

12 December 2020

Familial paroxysmal hypnogenic dystonia.

1 reference

12 December 2020

10.1007/S00415-004-0541-X

Identifiers

DOI

1 reference

10 August 2017

1 reference

PubMed ID

15316796