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Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

Neurology, 2004-07, Vol.63 (2), p.329-334

2004

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

Neurology, 1999-11, Vol.53 (8), p.1749-1749

1999

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

Neurology, 2001-08, Vol.57 (4), p.703

2001

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A Case of Hemiplegic Migraine in Childhood: Transient Unilateral Hyperperfusion Revealed by Perfusion MR Imaging and MR Angiography

American journal of neuroradiology : AJNR, 2001-10, Vol.22 (9), p.1795-1797

2001

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Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na +)-channel α1 subunit gene, SCN1A

Epilepsy research, 2002, Vol.48 (1), p.15-23

2002

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Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan

Brain & development (Tokyo. 1979), 2010-06, Vol.32 (6), p.454-462

2010

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Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsions

Brain & development (Tokyo. 1979), 2008-05, Vol.30 (5), p.362-369

2008

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Genetics of Idiopathic Epilepsies

Epilepsia (Copenhagen), 2005-01, Vol.46 (s1), p.38-43

2005

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Valproate therapy does not deplete carnitine levels in otherwise healthy children

Pediatrics (Evanston), 1998-05, Vol.101 (5), p.E9-e9

1998

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Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

Epilepsia (Copenhagen), 2004-02, Vol.45 (2), p.140-148

2004

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Development of the Temporal Lobe in Infants and Children: Analysis by MR-Based Volumetry

American journal of neuroradiology : AJNR, 1999-04, Vol.20 (4), p.717-723

1999

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Effect of growth hormone on high plasma levels of glucagon-like peptide-1 (GLP-1) in hypophysectomized rats

Experimental and clinical endocrinology & diabetes, 2002-10, Vol.110 (7), p.361-363

2002

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The effectiveness of clonazepam on the rolandic discharges

Brain & development (Tokyo. 1979), 1997-06, Vol.19 (4), p.274-278

1997

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Clinicopathologic Correlation of C1q Nephropathy in Children

American journal of kidney diseases, 2006-03, Vol.47 (3), p.412-418

2006

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A novel intragenetic PvuII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4). Mutation and polymorphism report no. 62. Online

Human mutation, 1999, Vol.14 (1), p.93-93

1999

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Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis

Epilepsy Research, 2000-10, Vol.41 (3), p.191-204

2000

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A novel SSCP variant (c.828G>A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene, CHRNA4

Human mutation, 2000-11, Vol.16 (5), p.450-450

2000

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Late-onset type II glutaric aciduria with massive pericardial effusion associated with severe fatty liver

Acta pædiatrica (Oslo), 2000-07, Vol.89 (7), p.887-888

2000

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The genetics of febrile seizures and related epilepsy syndromes

Brain & development (Tokyo. 1979), 2003-08, Vol.25 (5), p.304-312

2003

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X-Linked mental retardation and epilepsy: pathogenetic significance of ARX mutations

Brain & development (Tokyo. 1979), 2003-04, Vol.25 (3), p.161-165

2003

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

Annals of neurology, 2000-06, Vol.47 (6), p.822-826

2000

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Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family

Epilepsia (Copenhagen), 2000-01, Vol.41 (1), p.52-58

2000

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Genetic abnormalities underlying familial epilepsy syndromes

Brain & development (Tokyo. 1979), 2002-06, Vol.24 (4), p.211-222

2002

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Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

Epilepsy research, 2002-01, Vol.48 (1-2), p.15-23

2002

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An Infant With a Mitochondrial A3243G Mutation Demonstrating the MELAS Phenotype

Pediatric neurology, 2006-03, Vol.34 (3), p.235-238

2006

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Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

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

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

A Case of Hemiplegic Migraine in Childhood: Transient Unilateral Hyperperfusion Revealed by Perfusion MR Imaging and MR Angiography

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na +)-channel α1 subunit gene, SCN1A

Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan

Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsions

Genetics of Idiopathic Epilepsies

Valproate therapy does not deplete carnitine levels in otherwise healthy children

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

Development of the Temporal Lobe in Infants and Children: Analysis by MR-Based Volumetry

Effect of growth hormone on high plasma levels of glucagon-like peptide-1 (GLP-1) in hypophysectomized rats

The effectiveness of clonazepam on the rolandic discharges

Clinicopathologic Correlation of C1q Nephropathy in Children

A novel intragenetic PvuII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4). Mutation and polymorphism report no. 62. Online

Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis

A novel SSCP variant (c.828G>A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene, CHRNA4

Late-onset type II glutaric aciduria with massive pericardial effusion associated with severe fatty liver

The genetics of febrile seizures and related epilepsy syndromes

X-Linked mental retardation and epilepsy: pathogenetic significance of ARX mutations

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

Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family

Genetic abnormalities underlying familial epilepsy syndromes

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

An Infant With a Mitochondrial A3243G Mutation Demonstrating the MELAS Phenotype

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