4.5 Article

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

Related references

Note: Only part of the references are listed.
Article Pathology

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

Astrid Eijkelenboom et al.

JOURNAL OF MOLECULAR DIAGNOSTICS (2016)

Article Genetics & Heredity

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Rocio Acuna-Hidalgo et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Medicine, General & Internal

Somatic Mutations in Cerebral Cortical Malformations

Saumya S. Jamuar et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Review Genetics & Heredity

The SCN1A gene variants and epileptic encephalopathies

Rashmi Parihar et al.

JOURNAL OF HUMAN GENETICS (2013)

Article Neurosciences

CACNA1A variants may modify the epileptic phenotype of Dravet syndrome

Iori Ohmori et al.

NEUROBIOLOGY OF DISEASE (2013)

Article Clinical Neurology

Progressive Gait Deterioration in Adolescents With Dravet Syndrome

Jill M. Rodda et al.

ARCHIVES OF NEUROLOGY (2012)

Article Behavioral Sciences

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures

Y. -W. Shi et al.

GENES BRAIN AND BEHAVIOR (2012)

Article Clinical Neurology

Genotype-phenotype associations in SCN1A-related epilepsies

S. M. Zuberi et al.

NEUROLOGY (2011)

Article Clinical Neurology

A long-term follow-up study of Dravet syndrome up to adulthood

Mari Akiyama et al.

EPILEPSIA (2010)

Article Genetics & Heredity

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Christel Depienne et al.

JOURNAL OF MEDICAL GENETICS (2010)

Article Genetics & Heredity

Parental SCN1A mutation mosaicism in familial Dravet syndrome

K. K. Selmer et al.

CLINICAL GENETICS (2009)

Article Biochemistry & Molecular Biology

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

Melinda S. Martin et al.

HUMAN MOLECULAR GENETICS (2007)

Article Clinical Neurology

The spectrum of SCNIA-related infantile epileptic encephalopathies

Louise A. Harkin et al.

BRAIN (2007)

Article Genetics & Heredity

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

Blake C. Balliff et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Article Clinical Neurology

Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy

Carla Marini et al.

EPILEPSIA (2006)

Article Biochemistry & Molecular Biology

Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy

E Genmaro et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)

Article Genetics & Heredity

SCN1A mutations and epilepsy

JC Mulley et al.

HUMAN MUTATION (2005)

Review Genetics & Heredity

In vivo reversion to normal of inherited mutations in humans

R Hirschhorn

JOURNAL OF MEDICAL GENETICS (2003)

Review Genetics & Heredity

Mechanisms and consequences of somatic mosaicism in humans

H Youssoufian et al.

NATURE REVIEWS GENETICS (2002)

Article Genetics & Heredity

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

NA Ellis et al.

HUMAN GENETICS (2001)

Article Genetics & Heredity

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

A Escayg et al.

NATURE GENETICS (2000)