Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The
disease usually manifests in previously healthy adolescents, and death commonly occurs …

Lafora's disease is one of five inherited progressive myoclonus epilepsy syndromes. It is an
autosomal-recessive disorder with onset in late childhood or adolescence. Characteristic …

В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …

Glycogen synthesis is normally absent in neurons. However, inclusion bodies resembling
abnormal glycogen accumulate in several neurological diseases, particularly in progressive …

Starch is the major storage carbohydrate in plants. It is comprised of glucans that form
semicrystalline granules. Glucan phosphorylation is a prerequisite for normal starch …

We have isolated KCNQ5, a novel human member of the KCNQ potassium channel gene
family that is differentially expressed in subregions of the brain and in skeletal muscle. When …

Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause
Lafora disease (LD), a progressive and invariably fatal epilepsy with periodic acid–Schiff …

Lafora disease (LD) is a fatal form of progressive myoclonus epilepsy caused by recessive
mutations in either a gene encoding a dual-specificity phosphatase, known as laforin, or a …

Lafora disease is a fatal form of progressive myoclonic epilepsy caused by mutations in the
EPM2A or NHLRC1/EPM2B genes that usually appears during adolescence. The Epm2a …

Lafora disease (LD) is an autosomal recessive, progressive myoclonus epilepsy, which is
characterized by the accumulation of polyglucosan inclusion bodies, called Lafora bodies, in …