Entry - 310370 - MYOCLONIC EPILEPSY, PROGRESSIVE - OMIM

 
ICD+
310370

MYOCLONIC EPILEPSY, PROGRESSIVE


Clinical Synopsis
 

Neuro
- Progressive myoclonus seizures
Inheritance
- X-linked form
▲ Close

TEXT

▼ Clinical Features

Wienker et al. (1979) reported a possibly X-linked form of progressive myoclonic epilepsy. They observed 4 affected males in 3 different sibships related through females, some of whom showed mild, variable symptoms. A fifth male in an earlier generation may have been affected. The authors suggested that kindred 10 of Vogel et al. (1965) may likewise have had an X-linked form of the disorder.


▼ REFERENCES

  1. Vogel, F., Hafner, M., Diebold, K. Zur Genetik der progressiven Myoklonusepilepsien (Unverricht-Lundborg). Humangenetik 1: 437-475, 1965. [PubMed: 5868699, related citations]

  2. Wienker, T. F., von Reutern, G. M., Ropers, H. H. Progressive myoclonus epilepsy: a variant with probable X-linked inheritance. Hum. Genet. 49: 83-89, 1979. [PubMed: 112032, related citations]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
carol : 03/31/2022
terry : 04/29/1999
mimadm : 2/28/1994
carol : 11/23/1993
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988

310370

MYOCLONIC EPILEPSY, PROGRESSIVE


SNOMEDCT: 267581004;   ORPHA: 308;   DO: 891;  



TEXT

Clinical Features

Wienker et al. (1979) reported a possibly X-linked form of progressive myoclonic epilepsy. They observed 4 affected males in 3 different sibships related through females, some of whom showed mild, variable symptoms. A fifth male in an earlier generation may have been affected. The authors suggested that kindred 10 of Vogel et al. (1965) may likewise have had an X-linked form of the disorder.


REFERENCES

  1. Vogel, F., Hafner, M., Diebold, K. Zur Genetik der progressiven Myoklonusepilepsien (Unverricht-Lundborg). Humangenetik 1: 437-475, 1965. [PubMed: 5868699]

  2. Wienker, T. F., von Reutern, G. M., Ropers, H. H. Progressive myoclonus epilepsy: a variant with probable X-linked inheritance. Hum. Genet. 49: 83-89, 1979. [PubMed: 112032]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 03/31/2022
terry : 04/29/1999
mimadm : 2/28/1994
carol : 11/23/1993
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 15, 2025