Role of SOX2 mutations in human hippocampal malformations and epilepsy

Sanjay M Sisodiya; Nicola K Ragge; Gianpiero L Cavalleri; Ann Hever; Birgit Lorenz; Adele Schneider; Kathleen A Williamson; John M Stevens; Samantha L Free; Pamela J Thompson; Veronica van Heyningen; David R Fitzpatrick

doi:10.1111/j.1528-1167.2006.00464.x

Role of SOX2 mutations in human hippocampal malformations and epilepsy

Sanjay M Sisodiya, Nicola K Ragge, Gianpiero L Cavalleri, Ann Hever, Birgit Lorenz, Adele Schneider, Kathleen A Williamson, John M Stevens, Samantha L Free, Pamela J Thompson, Veronica van Heyningen, David R Fitzpatrick

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies.

Original language	English
Pages (from-to)	534-42
Number of pages	9
Journal	Epilepsia
Volume	47
Issue number	3
DOIs	https://doi.org/10.1111/j.1528-1167.2006.00464.x
Publication status	Published - Mar 2006

Keywords / Materials (for Non-textual outputs)

Adolescent
Animals
Child
Epilepsy
Epilepsy, Temporal Lobe
Eye Abnormalities
Eye Proteins
Female
Functional Laterality
Gene Expression
Genetic Variation
HMGB Proteins
Haplotypes
Hippocampus
Homeodomain Proteins
Humans
Immunohistochemistry
Magnetic Resonance Imaging
Male
Mice
Mutation
Paired Box Transcription Factors
Phenotype
Repressor Proteins
SOXB1 Transcription Factors
Sclerosis
Seizures, Febrile
Temporal Lobe
Transcription Factors

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10.1111/j.1528-1167.2006.00464.x

Cite this

@article{55d23301cb2c44789679ca30b7b3d5f9,

title = "Role of SOX2 mutations in human hippocampal malformations and epilepsy",

abstract = "Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies.",

keywords = "Adolescent, Animals, Child, Epilepsy, Epilepsy, Temporal Lobe, Eye Abnormalities, Eye Proteins, Female, Functional Laterality, Gene Expression, Genetic Variation, HMGB Proteins, Haplotypes, Hippocampus, Homeodomain Proteins, Humans, Immunohistochemistry, Magnetic Resonance Imaging, Male, Mice, Mutation, Paired Box Transcription Factors, Phenotype, Repressor Proteins, SOXB1 Transcription Factors, Sclerosis, Seizures, Febrile, Temporal Lobe, Transcription Factors",

author = "Sisodiya, {Sanjay M} and Ragge, {Nicola K} and Cavalleri, {Gianpiero L} and Ann Hever and Birgit Lorenz and Adele Schneider and Williamson, {Kathleen A} and Stevens, {John M} and Free, {Samantha L} and Thompson, {Pamela J} and {van Heyningen}, Veronica and Fitzpatrick, {David R}",

year = "2006",

month = mar,

doi = "10.1111/j.1528-1167.2006.00464.x",

language = "English",

volume = "47",

pages = "534--42",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "BLACKWELL PUBLISHING INC",

number = "3",

}

TY - JOUR

T1 - Role of SOX2 mutations in human hippocampal malformations and epilepsy

AU - Sisodiya, Sanjay M

AU - Ragge, Nicola K

AU - Cavalleri, Gianpiero L

AU - Hever, Ann

AU - Lorenz, Birgit

AU - Schneider, Adele

AU - Williamson, Kathleen A

AU - Stevens, John M

AU - Free, Samantha L

AU - Thompson, Pamela J

AU - van Heyningen, Veronica

AU - Fitzpatrick, David R

PY - 2006/3

Y1 - 2006/3

N2 - Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies.

AB - Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies.

KW - Adolescent

KW - Animals

KW - Child

KW - Epilepsy

KW - Epilepsy, Temporal Lobe

KW - Eye Abnormalities

KW - Eye Proteins

KW - Female

KW - Functional Laterality

KW - Gene Expression

KW - Genetic Variation

KW - HMGB Proteins

KW - Haplotypes

KW - Hippocampus

KW - Homeodomain Proteins

KW - Humans

KW - Immunohistochemistry

KW - Magnetic Resonance Imaging

KW - Male

KW - Mice

KW - Mutation

KW - Paired Box Transcription Factors

KW - Phenotype

KW - Repressor Proteins

KW - SOXB1 Transcription Factors

KW - Sclerosis

KW - Seizures, Febrile

KW - Temporal Lobe

KW - Transcription Factors

U2 - 10.1111/j.1528-1167.2006.00464.x

DO - 10.1111/j.1528-1167.2006.00464.x

M3 - Article

C2 - 16529618

SN - 0013-9580

VL - 47

SP - 534

EP - 542

JO - Epilepsia

JF - Epilepsia

IS - 3

ER -

Role of SOX2 mutations in human hippocampal malformations and epilepsy

Abstract / Description of output

Keywords / Materials (for Non-textual outputs)

Access to Document

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Cite this