M. Litt

University of Pennsylvania Health System

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Paroxysmal kinesigenic dyskinesia and infantile convulsions

Neurology (2000)

Kathryn J. Swoboda Bing‐Wen Soong Caoimhe McKenna E. R. Brunt M. Litt

Objective: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. Background: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing in response to sudden movement, stress, or excitement. Recently, an autosomal dominant PKD locus on chromosome 16 was identified. Methods: The authors studied 11 previously unreported families of diverse ethnic background with PKD with or without infantile convulsions and performed linkage analysis with markers spanning the chromosome 16 locus. Detailed clinical questionnaires and interviews were conducted with affected and unaffected family members. Results: Clinical characterization and sampling of 95 individuals in 11 families revealed 44 individuals with paroxysmal dyskinesia, infantile convulsions, or both. Infantile convulsions were surprisingly common, occurring in 9 of 11 families. In only two individuals did generalized seizures occur in later childhood or adulthood. The authors defined a 26-cM region using linkage data in 11 families (maximum lod score 6.63 at θ = 0). Affected individuals in one family showed no evidence for a shared haplotype in this region, implying locus heterogeneity. Conclusions: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.

Paroxysmal dyskinesia

Genetic linkage

Movement Disorders

10.1212/wnl.55.2.224

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Citations (123)

Update on Cardiac Myosin Inhibitors and Potential Role in Treating Obstructive Hypertrophic Cardiomyopathy

Innovations Technology and Techniques in Cardiothoracic and Vascular Surgery (2023)

M. Litt Sharlene M. Day

10.1177/15569845221138244

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Citations (0)

Phage 8–10 identifies an RFLP on 11q23-qter [HGM9 no. D11S286]

Nucleic Acids Research (1988)

Jacob Luty J. Kellogg Cheryl L. Maslen C. Jones T. Glaser

Journal Article Phage 8–10 identifies an RFLP on 11q23-qter [HGM9 no. D11S286] Get access J. Luty, J. Luty Search for other works by this author on: Oxford Academic PubMed Google Scholar J. Kellogg, J. Kellogg Search for other works by this author on: Oxford Academic PubMed Google Scholar C. Maslen, C. Maslen Search for other works by this author on: Oxford Academic PubMed Google Scholar C. Jones, C. Jones 1Eleanor Roosevelt Institute for Cancer ResearchDenver, CO, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar T. Glaser, T. Glaser 2Center for Cancer Research, Massachussetts Institute of TechnologyCambridge, MA, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar M. Litt M. Litt Search for other works by this author on: Oxford Academic PubMed Google Scholar Nucleic Acids Research, Volume 16, Issue 14, 25 July 1988, Page 7210, https://doi.org/10.1093/nar/16.14.7210 Published: 25 July 1988

10.1093/nar/16.14.7210

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Citations (2)

Abstracts of workshop presentations pp. 1040-1056

Cytogenetic and Genome Research (1989)

K. Kidd J. Schmidtke R.K. Track F. Ricciuti G. Hutchings

10.1159/000227823

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Citations (6)

Dinucleotide repeat polymorphism at the D1S117 locus

Nucleic Acids Research (1991)

Vikram Sharma M. Litt

The probe, EFD 139.1, was isolated as described by Nakamura et al. (1).It is cloned into the plasmid vector pUC18.The locus designation is D4S184.Polymorphism: The probe EFD 139.1 detects a multi-allele polymorphism in HindH digests of human DNA.At least 11 different alleles have been observed.The allelic fragments vary in size from 3.5 to 8.0 kbp.Three invariant fragments are observed at 0.5, 0.7 and 2.0 kbp.Chromosomal Localization: The allelic fragments were assigned to the q21-qter region of chromosome 4 using somatic cell hybrids (2).The three constant bands are derived from the acrocentric chromosomes (13, 14, 15, 21 and 22) as determined from a hybrid cell mapping panel.Mendelian Inheritance: The codominant inheritance of alleles was demonstrated in 30 meioses (see Fig.).

Dinucleotide Repeat

10.1093/nar/19.5.1168-a

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Citations (12)

RFLPs revealed by cosmid 131 [HGM9 no. D17S78].

Nucleic Acids Research (1988)

Jacob Luty S. Kondoleon Peter van Tuinen David H. Ledbetter Henrik Vissing

Cosmid

10.1093/nar/16.13.6250

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Citations (2)

Autosomal-Dominant Congenital Cataract Associated with a Deletion Mutation in the Human Beaded Filament Protein Gene BFSP2