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A prickly cause of progressive myoclonic epilepsy
Author(s) -
Warby S
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01150_1.x
Subject(s) - progressive myoclonus epilepsy , epilepsy , myoclonus , myoclonic epilepsy , ataxia , mutation , genetics , medicine , lafora disease , pediatrics , biology , psychiatry , gene , phosphorylation , phosphatase
A homozygous mutation in human PRICKLE1 causes an autosomal‐recessive Progressive Myoclonus Epilepsy‐Ataxia Syndrome
Bassuk et al. (2008)
American Journal of Human Genetics 83: 1–10.