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The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

Neuroscience letters, 2009-04, Vol.453 (3), p.162-165

2009

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Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function

Neuroscience, 2007-08, Vol.148 (1), p.164-174

2007

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Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2

Nature genetics, 1995-05, Vol.10 (1), p.117-118

1995

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Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

American journal of human genetics, 1998-10, Vol.63 (4), p.1108-1116

1998

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Fragile X syndrome without CCG amplification has an FMR1 deletion

Nature genetics, 1992-08, Vol.1 (5), p.341-344

1992

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De novo SCN1A mutations in migrating partial seizures of infancy

Neurology, 2011-07, Vol.77 (4), p.380-383

2011

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

Neurology, 2011-04, Vol.76 (17), p.1514-1519

2011

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ELO01 Phenotypic characterisation of a large family with benign familial neonatal seizures associated with an exon duplication of the KCNQ2 gene

European journal of paediatric neurology, 2007, Vol.11, p.33-33

2007

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Incidence and origin of null alleles in the (AC)n microsatellite markers

American journal of human genetics, 1993-05, Vol.52 (5), p.922-927

1993

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Fragile X Genotype Characterized by an Unstable Region of DNA

Science (American Association for the Advancement of Science), 1991-05, Vol.252 (5009), p.1179-1181

1991

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

American journal of human genetics, 2001-06, Vol.68 (6), p.1386-1397

2001

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Mapping the short arm of human chromosome 16

Genomics (San Diego, Calif.), 1989-04, Vol.4 (3), p.348-354

1989

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Genetic adaptation to captivity and inbreeding depression in small laboratory populations of Drosophila melanogaster

Genetics (Austin), 1995-01, Vol.139 (1), p.255-266

1995

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Reduced genetic load revealed by slow inbreeding in Drosophila melanogaster

Genetics (Austin), 1995-01, Vol.139 (1), p.287-297

1995

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Genotype-phenotype relationships in fragile X syndrome : a family study

American journal of human genetics, 1993-11, Vol.53 (5), p.1064-1073

1993

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A Linkage Map of Microsatellite Markers on the Human X Chromosome

Genomics (San Diego, Calif.), 1994-04, Vol.20 (3), p.363-370

1994

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Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

American journal of human genetics, 2001-04, Vol.68 (4), p.859-865

2001

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Refined genetic localization for central core disease

American journal of human genetics, 1993-02, Vol.52 (2), p.398-405

1993

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Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci

Genomics (San Diego, Calif.), 1993-05, Vol.16 (2), p.455-460

1993

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A PCR-Based Genetic Linkage Map of Human Chromosome 16

Genomics (San Diego, Calif.), 1994-07, Vol.22 (1), p.68-76

1994

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The CEPH consortium linkage map of human chromosome 16

Genomics (San Diego, Calif.), 1995, Vol.25 (1), p.44-58

1995

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Genetic mapping of new RFLPs at Xq27–q28

Genomics (San Diego, Calif.), 1991, Vol.9 (1), p.37-43

1991

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Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26

Nucleic acids research, 1991-09, Vol.19 (18), p.5087-5087

1991

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Xmn I, Hinc II and Bcl I RFLPs at D16S79

Nucleic acids research, 1989, Vol.17 (12), p.4905-4905

1989

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An Msp 1 RFLP at D16S10

Nucleic acids research, 1989, Vol.17 (5), p.2146-2146

1989

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The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2

Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

Fragile X syndrome without CCG amplification has an FMR1 deletion

De novo SCN1A mutations in migrating partial seizures of infancy

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

ELO01 Phenotypic characterisation of a large family with benign familial neonatal seizures associated with an exon duplication of the KCNQ2 gene

Incidence and origin of null alleles in the (AC)n microsatellite markers

Fragile X Genotype Characterized by an Unstable Region of DNA

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Mapping the short arm of human chromosome 16

Genetic adaptation to captivity and inbreeding depression in small laboratory populations of Drosophila melanogaster

Reduced genetic load revealed by slow inbreeding in Drosophila melanogaster

Genotype-phenotype relationships in fragile X syndrome : a family study

A Linkage Map of Microsatellite Markers on the Human X Chromosome

Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

Refined genetic localization for central core disease

Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci

A PCR-Based Genetic Linkage Map of Human Chromosome 16

The CEPH consortium linkage map of human chromosome 16

Genetic mapping of new RFLPs at Xq27–q28

Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26

Xmn I, Hinc II and Bcl I RFLPs at D16S79

An Msp 1 RFLP at D16S10

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