Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome

Anna Schossig; Nicole I Wolf; Ines Kapferer; Alfried Kohlschütter; Johannes Zschocke

doi:10.1016/j.ejmg.2012.02.008

Epileptic encephalopathy and amelogenesis imperfecta

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Epileptic encephalopathy and amelogenesis imperfecta : Kohlschütter-Tönz syndrome. / Schossig, Anna; Wolf, Nicole I; Kapferer, Ines; Kohlschütter, Alfried; Zschocke, Johannes.

in: EUR J MED GENET, Jahrgang 55, Nr. 5, 01.05.2012, S. 319-22.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Schossig, A, Wolf, NI, Kapferer, I, Kohlschütter, A & Zschocke, J 2012, 'Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome', EUR J MED GENET, Jg. 55, Nr. 5, S. 319-22. https://doi.org/10.1016/j.ejmg.2012.02.008

APA

Schossig, A., Wolf, N. I., Kapferer, I., Kohlschütter, A., & Zschocke, J. (2012). Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome. EUR J MED GENET, 55(5), 319-22. https://doi.org/10.1016/j.ejmg.2012.02.008

Vancouver

Schossig A, Wolf NI, Kapferer I, Kohlschütter A, Zschocke J. Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome. EUR J MED GENET. 2012 Mai 1;55(5):319-22. https://doi.org/10.1016/j.ejmg.2012.02.008

Bibtex

@article{bcd12839b71d40f187389f84a5da0b3e,

title = "Epileptic encephalopathy and amelogenesis imperfecta: Kohlsch{\"u}tter-T{\"o}nz syndrome",

abstract = "Kohlsch{\"u}tter-T{\"o}nz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth. The first affected family was described in 1974, and 25 patients in 11 families have been reported until now. Inheritance is autosomal recessive. Epilepsy usually starts within the first or second year of life. All affected individuals show a psychomotor regression after onset of epilepsy or a developmental delay from birth on. Clinical course and disease severity are variable even within families. There are no known biochemical or other diagnostic markers of the condition. Very recently it has been shown that the condition is caused by mutations in the gene ROGDI but molecular data have only been reported for three families. It remains to be seen whether Kohlsch{\"u}tter-T{\"o}nz syndrome has the same molecular basis in all affected individuals.",

keywords = "Abnormalities, Multiple, Amelogenesis Imperfecta, Brain, Dementia, Diagnosis, Differential, Epilepsy, Genes, Recessive, Humans, Membrane Proteins, Mutation, Nuclear Proteins",

author = "Anna Schossig and Wolf, {Nicole I} and Ines Kapferer and Alfried Kohlsch{\"u}tter and Johannes Zschocke",

year = "2012",

month = may,

day = "1",

doi = "10.1016/j.ejmg.2012.02.008",

language = "English",

volume = "55",

pages = "319--22",

journal = "EUR J MED GENET",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

number = "5",

}

RIS

TY - JOUR

T1 - Epileptic encephalopathy and amelogenesis imperfecta

T2 - Kohlschütter-Tönz syndrome

AU - Schossig, Anna

AU - Wolf, Nicole I

AU - Kapferer, Ines

AU - Kohlschütter, Alfried

AU - Zschocke, Johannes

PY - 2012/5/1

Y1 - 2012/5/1

N2 - Kohlschütter-Tönz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth. The first affected family was described in 1974, and 25 patients in 11 families have been reported until now. Inheritance is autosomal recessive. Epilepsy usually starts within the first or second year of life. All affected individuals show a psychomotor regression after onset of epilepsy or a developmental delay from birth on. Clinical course and disease severity are variable even within families. There are no known biochemical or other diagnostic markers of the condition. Very recently it has been shown that the condition is caused by mutations in the gene ROGDI but molecular data have only been reported for three families. It remains to be seen whether Kohlschütter-Tönz syndrome has the same molecular basis in all affected individuals.

AB - Kohlschütter-Tönz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth. The first affected family was described in 1974, and 25 patients in 11 families have been reported until now. Inheritance is autosomal recessive. Epilepsy usually starts within the first or second year of life. All affected individuals show a psychomotor regression after onset of epilepsy or a developmental delay from birth on. Clinical course and disease severity are variable even within families. There are no known biochemical or other diagnostic markers of the condition. Very recently it has been shown that the condition is caused by mutations in the gene ROGDI but molecular data have only been reported for three families. It remains to be seen whether Kohlschütter-Tönz syndrome has the same molecular basis in all affected individuals.

KW - Abnormalities, Multiple

KW - Amelogenesis Imperfecta

KW - Brain

KW - Dementia

KW - Diagnosis, Differential

KW - Epilepsy

KW - Genes, Recessive

KW - Humans

KW - Membrane Proteins

KW - Mutation

KW - Nuclear Proteins

U2 - 10.1016/j.ejmg.2012.02.008

DO - 10.1016/j.ejmg.2012.02.008

M3 - SCORING: Journal article

C2 - 22522085

VL - 55

SP - 319

EP - 322

JO - EUR J MED GENET

JF - EUR J MED GENET

SN - 1769-7212

IS - 5

ER -