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Epileptic Encephalopathies: New Genes and New Pathways

Neurotherapeutics, 2014-10, Vol.11 (4), p.796-806

2014

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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Annals of clinical and translational neurology, 2015-06, Vol.2 (6), p.623-635

2015

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Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Annals of neurology, 2015-08, Vol.78 (2), p.323-328

2015

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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

PLoS genetics, 2013-10, Vol.9 (10), p.e1003823-e1003823

2013

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A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

American journal of human genetics, 2007-10, Vol.81 (4), p.792-798

2007

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BOD1 Is Required for Cognitive Function in Humans and Drosophila

PLoS genetics, 2016-05, Vol.12 (5), p.e1006022-e1006022

2016

Volltextzugriff (PDF)

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Annals of clinical and translational neurology, 2015-06, Vol.2 (6), p.623-635

2015

Volltextzugriff (PDF)

De novo mutations in epileptic encephalopathies

Nature (London), 2013-09, Vol.501 (7466), p.217-221

2013

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.847-855

2012

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Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population

European journal of medical genetics, 2009-07, Vol.52 (4), p.170-173

2009

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Human genetics, 2006-02, Vol.118 (6), p.708-715

2006

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A defect in the lonotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

American journal of human genetics, 2007-10, Vol.81 (4), p.792-798

2007

Volltextzugriff (PDF)

SNP array-based homozygosity mapping reveals MCPH71 deletion in family with autosomal recessive mental retardation and mild microcephaly

Human genetics, 2006, Vol.118 (6), p.708-715

2006

Volltextzugriff (PDF)

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Epileptic Encephalopathies: New Genes and New Pathways

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

BOD1 Is Required for Cognitive Function in Humans and Drosophila

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

De novo mutations in epileptic encephalopathies

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria: e1003823

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

A defect in the lonotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

SNP array-based homozygosity mapping reveals MCPH71 deletion in family with autosomal recessive mental retardation and mild microcephaly

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