A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p

Kramer, P L; Gancher, S T; Nutt, J G

Title: A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p

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Abstract

Episodic ataxia (EA) is a rare neurological disorder characterized by attacks of generalized ataxia and near-normal neurological function between attacks. Most inherited cases are the result of an autosomal dominant condition with unknown neuropathology. It is heterogeneous and includes at least two distinct forms. In EA-1, attacks last minutes and interictal myokymia may be present. In EA-2, attacks may last hours and interictal nystagmus may occur. We reported linkage in four EA-1 families to chromosome 12p13 and identified mutations in these families in a potassium channel gene, KCNA1. Recently, we reported linkage in two EA-2 families to a 30-cM region on chromosome 19p. This report is based on members of the same two families and one additional kindred. 18 refs., 1 fig., 1 tab.

Authors:

Kramer, P L; Gancher, S T; Nutt, J G ^[1]

Oregon Health Oregon Health Sciences Univ., Portland, OR (United States); and others

Publication Date:: Sat Jul 01 00:00:00 EDT 1995

OSTI Identifier:: 91079

Resource Type:: Journal Article

Journal Name:: American Journal of Human Genetics

Additional Journal Information:: Journal Volume: 57; Journal Issue: 1; Other Information: PBD: Jul 1995

Country of Publication:: United States

Language:: English

Subject:: 55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; NERVOUS SYSTEM DISEASES; HUMAN CHROMOSOME 19; GENETIC MAPPING; GENES; DOMINANT MUTATIONS; GENETICS; BIOLOGICAL MARKERS; STATISTICS; GENE MUTATIONS

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                    Kramer, P L, Gancher, S T, and Nutt, J G. A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p.  United States: N. p., 1995. 
        Web.

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                    Kramer, P L, Gancher, S T, & Nutt, J G. A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p.  United States.

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                    Kramer, P L, Gancher, S T, and Nutt, J G. 1995.  
        "A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p".  United States.

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@article{osti_91079,

  title        = {A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p},

  author       = {Kramer, P L and Gancher, S T and Nutt, J G},

  abstractNote = {Episodic ataxia (EA) is a rare neurological disorder characterized by attacks of generalized ataxia and near-normal neurological function between attacks. Most inherited cases are the result of an autosomal dominant condition with unknown neuropathology. It is heterogeneous and includes at least two distinct forms. In EA-1, attacks last minutes and interictal myokymia may be present. In EA-2, attacks may last hours and interictal nystagmus may occur. We reported linkage in four EA-1 families to chromosome 12p13 and identified mutations in these families in a potassium channel gene, KCNA1. Recently, we reported linkage in two EA-2 families to a 30-cM region on chromosome 19p. This report is based on members of the same two families and one additional kindred. 18 refs., 1 fig., 1 tab.},

  doi          = {},

  url          = {https://www.osti.gov/biblio/91079},
  journal      = {American Journal of Human Genetics},
number       = 1,

  volume       = 57,

  place        = {United States},

  year         = {Sat Jul 01 00:00:00 EDT 1995},

  month        = {Sat Jul 01 00:00:00 EDT 1995}

}

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A gene for nystagmus-associated episodic ataxia maps to chromosome 19p

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