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

main subject

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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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10 August 2017

Maria Luisa Tenchini

series ordinal

3

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10 August 2017

publication date

1 August 2004

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10 August 2017

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10 August 2017

volume

251

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10 August 2017

issue

8

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10 August 2017

page(s)

923-934

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The wide clinical spectrum of nocturnal frontal lobe epilepsy

10 August 2017

cites work

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

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Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?

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

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

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

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Episodic nocturnal wanderings in non-epileptic young patients

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

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Complex partial seizures of frontal lobe origin

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

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

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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

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

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

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

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

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

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Paroxysmal periodic motor attacks during sleep: clinical and polygraphic features

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Sleep and arousal: thalamocortical mechanisms

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Nicotinic receptors in circuit excitability and epilepsy

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

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

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

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A de novo mutation in sporadic nocturnal frontal lobe epilepsy

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

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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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How mutations in the nAChRs can cause ADNFLE epilepsy

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Paroxysmal arousals during sleep

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Targeting epilepsy genes

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

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

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REM sleep behavior disorder.

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

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

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

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

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Sudden arousals from slow-wave sleep and panic disorder

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

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

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Autosomal dominant nocturnal frontal lobe epilepsy

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

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Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy?

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

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Neuronal nicotinic acetylcholine receptors: from the gene to the disease

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Epileptic nocturnal wanderings

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

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12 December 2020

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

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Episodic nocturnal wanderings

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Nocturnal paroxysmal dystonia: a clinical form of focal epilepsy

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Nocturnal paroxysmal dystonia

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12 December 2020

Orbital Frontal Seizures. An Unique Electroencephalographic and Clinical Syndrome*

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12 December 2020

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

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12 December 2020

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

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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

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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

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12 December 2020

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

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12 December 2020

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

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

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Central cholinergic systems and cognition

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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

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12 December 2020

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

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12 December 2020

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

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12 December 2020

Channelopathies can cause epilepsy in man.

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12 December 2020

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

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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

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12 December 2020

The value of sleep recording in evaluating somnambulism in young adults

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12 December 2020

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

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12 December 2020

A potassium channel mutation in neonatal human epilepsy

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12 December 2020

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

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12 December 2020

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

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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

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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

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12 December 2020

Hereditary factors in sleepwalking and night terrors

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Familial paroxysmal hypnogenic dystonia

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12 December 2020

10.1007/S00415-004-0541-X

Identifiers

DOI

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10 August 2017

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