Recent advances in the genetics of epilepsy: insights from human and animal studies (Q33755692)

29 July 2017

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title

Recent advances in the genetics of epilepsy: insights from human and animal studies (English)

1 reference

29 July 2017

Prasad AN

1

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29 July 2017

Prasad C

series ordinal

2

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29 July 2017

Stafstrom CE

series ordinal

3

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29 July 2017

publication date

1 October 1999

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29 July 2017

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29 July 2017

volume

40

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29 July 2017

issue

10

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29 July 2017

page(s)

1329-1352

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Epilepsies with single gene inheritance.

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Shaking down new epilepsy genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

21 January 2018

Targeting epilepsy genes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Febrile seizures: genetics and relationship to other epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Trinucleotide repeat expansions and human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Epilepsy and fragile X syndrome: a follow-up study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Population-based family study designs: an interdisciplinary research framework for genetic epidemiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Epilepsies in twins: genetics of the major epilepsy syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

There is more than one way to collect data for linkage analysis. What a study of epilepsy can tell us about linkage strategy for psychiatric disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Pathophysiological mechanisms of genetic absence epilepsy in the rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Pharmacological profiles of generalized absence seizures in lethargic, stargazer and gamma-hydroxybutyrate-treated model mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A burst-dependent hippocampal excitability defect elicited by potassium at the developmental onset of spike-wave seizures in the Tottering mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Increased number of GABAB receptors in the lethargic (lh/lh) mouse model of absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Electroclinical signs of benign neonatal familial convulsions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Magnetic resonance imaging evidence of hippocampal injury after prolonged focal febrile convulsions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Febrile seizures: an appropriate-aged model suitable for long-term studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Corticotropin-releasing hormone is a rapid and potent convulsant in the infant rat

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Loss of Calbindin-D28K immunoreactivity from dentate granule cells in human temporal lobe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

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/10.1111%2FJ.1528-1157.1999.TB02004.X

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/10.1111%2FJ.1528-1157.1999.TB02004.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Localization of a gene for partial epilepsy to chromosome 10q

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Neurosarcoidosis: progress and clinical aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Bioactive lipids in excitatory neurotransmission and neuronal plasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Platelet-activating factor (PAF) receptor in rat brain: PAF mobilizes intracellular Ca2+ in hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Familial periventricular nodular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Periventricular heterotopia and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mechanisms of Cortical Development: A View From Mutations in Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Fragile X syndrome: associated neurological abnormalities and developmental disabilities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The Fra(X) syndrome: neurological, electrophysiological, and neuropathological abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Epilepsy and fragile X gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Angelman syndrome: correlations between epilepsy phenotypes and genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A deficit of functional GABA(A) receptors in neurons of beta 3 subunit knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A candidate model for Angelman syndrome in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Seizure Disorders in Down Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A prospective study of Alzheimer disease in Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The natural history of dementia in Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Down's syndrome: Is there a decreased population of neurons?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Dendritic atrophy in children with Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The role of altered sodium currents in action potential abnormalities of cultured dorsal root ganglion neurons from trisomy 21 (down syndrome) human fetuses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Neurophysiological abnormalities in cultured dorsal root ganglion neurons from the trisomy-16 mouse fetus, a model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Reduced expression of voltage-gated sodium channels in neurons cultured from trisomy 16 mouse hippocampus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A mouse model for Down syndrome exhibits learning and behaviour deficits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Altered long-term potentiation in the young and old Ts65Dn mouse, a model for Down Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Enhanced production of superoxide anion by microglia from trisomy 16 mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Glycine cleavage system in astrocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Kainic acid-induced generalized seizures alter the regional hippocampal expression of the rat Kv4.2 potassium channel gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Essential functions of synapsins I and II in synaptic vesicle regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Knockout of glutamate transporters reveals a major role for astroglial transport in excitotoxicity and clearance of glutamate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Epilepsy and brain abnormalities in mice lacking the Otx1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Localization of a gene for a glutamate binding subunit of a NMDA receptor (GRINA) to 8q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Epileptic seizures caused by inactivation of a novel gene, jerky, related to centromere binding protein-B in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Excitotoxin-induced neuronal degeneration and seizure are mediated by tissue plasminogen activator.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

The human gene mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

Glycine potentiates the NMDA response in cultured mouse brain neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1157.1999.TB02004.X

10.1111/J.1528-1157.1999.TB02004.X

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference