The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy (Q38187700)

30 August 2017

title

The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy (English)

1 reference

30 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24524648%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Thomas N Ferraro

1 reference

30 August 2017

publication date

1 March 2014

1 reference

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

30 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24524648%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24524648%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24524648%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

329-352

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24524648%20AND%20SRC:MED&resulttype=core&format=json

Genome wide association studies (GWAS) and common forms of human epilepsy

5 June 2020

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Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency

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Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

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Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

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Genome search for susceptibility loci of common idiopathic generalised epilepsies

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Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

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GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

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GLUT1 deficiency syndrome 2013: current state of the art

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The ketogenic diet: metabolic influences on brain excitability and epilepsy

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The ketogenic diet in children with Glut1 deficiency syndrome and epilepsy.

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Evaluation of Oral Glucose Tolerance Test in Children With Epilepsy

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Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain

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LGI1 mutations in autosomal dominant partial epilepsy with auditory features

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Mutations in EFHC1 cause juvenile myoclonic epilepsy

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21 January 2018

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Genetic generalized epilepsies

21 January 2018

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Molecular biology of epilepsy genes

21 January 2018

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Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

21 January 2018

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Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy

21 January 2018

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Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy

21 January 2018

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

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

21 January 2018

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The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy

21 January 2018

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Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes

21 January 2018

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Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

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Progressive myoclonus epilepsy

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Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target

21 January 2018

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Curing epilepsy: progress and future directions

21 January 2018

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Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

21 January 2018

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Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of patients with epilepsy.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Targeting several CAG expansion diseases by a single antisense oligonucleotide

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

21 January 2018

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A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin

21 January 2018

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Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.

21 January 2018

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Functional recovery of human cells harbouring the mitochondrial DNA mutation MERRF A8344G via peptide-mediated mitochondrial delivery

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Correcting human mitochondrial mutations with targeted RNA import

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Synergistic GABA-enhancing therapy against seizures in a mouse model of Dravet syndrome

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

21 January 2018

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Masking epilepsy by combining two epilepsy genes.

21 January 2018

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Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation

21 January 2018

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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

21 January 2018

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An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene

21 January 2018

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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

21 January 2018

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

21 January 2018

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Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

21 January 2018

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Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.

21 January 2018

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

21 January 2018

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

21 January 2018

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Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

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%2F14737175.2014.888651

Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

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

21 January 2018

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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

21 January 2018

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Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

21 January 2018

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

21 January 2018

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Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Serotonin transporter gene variation and refractory mesial temporal epilepsy with hippocampal sclerosis

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Increased risk of late posttraumatic seizures associated with inheritance of APOE epsilon4 allele

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Association of partial epilepsy with brain-derived neurotrophic factor (BDNF) gene polymorphisms

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

21 January 2018

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BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

21 January 2018

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Association of BRD2 polymorphisms with photoparoxysmal response.

21 January 2018

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Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online

21 January 2018

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Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Linkage and association analysis of CACNG3 in childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Association of the connexin36 gene with juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Association between the gamma-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial temporal lobe epilepsy in a Han Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

GABBR1 gene polymorphism(G1465A)isassociated with temporal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Promoter variants determine γ-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Interleukin-10 is associated with resistance to febrile seizures: genetic association and experimental animal studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

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%2F14737175.2014.888651

Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Association between the M129V variant allele of PRNP gene and mild temporal lobe epilepsy in women.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

IDH1/2 mutations in WHO grade II astrocytomas associated with localization and seizure as the initial symptom

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737175.2014.888651

No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Possible association between childhood absence epilepsy and the gene encoding GABRB3

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

Serotonin transporter gene (5HTT) polymorphisms and temporal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737175.2014.888651

10.1586/14737175.2014.888651

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24524648%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24524648%20AND%20SRC:MED&resulttype=core&format=json