(Q36688976)

15 August 2017

1 reference

title

Role of genetics in the diagnosis and treatment of epilepsy (English)

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ORCID Public Data File 2021

15 August 2017

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author name string

Thomas N Ferraro

series ordinal

1

1 reference

15 August 2017

Dennis J Dlugos

series ordinal

2

1 reference

15 August 2017

Russell J Buono

series ordinal

3

1 reference

15 August 2017

language of work or name

1 reference

1 December 2006

1 reference

Expert Review of Neurotherapeutics: a key contribution to decision making in the treatment of neurologic and neuropsychiatric disorders

15 August 2017

published in

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15 August 2017

volume

6

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15 August 2017

issue

12

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15 August 2017

page(s)

1789-1800

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Ethical, legal, and social dimensions of epilepsy genetics

15 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Andreas Rett and benign familial neonatal convulsions revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Neuronal KCNQ potassium channels: physiology and role in disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Epidemiology of Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

SCN1A mutations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Sodium channel mutations in epilepsy and other neurological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Absence and myoclonic status epilepticus precipitated by antiepileptic drugs in idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Two new putative susceptibility loci for ADNFLE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.6.12.1789

10.1586/14737175.6.12.1789

21 January 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference