## Communicated by Claude Feréc Lafora disease (LD) is a fatal form of teenage-onset autosomal recessive progressive myoclonus epilepsy. LD is more common among geographic isolates and in populations with a higher rate of consanguinity. Mutations in two genes, EPM2A encoding laforin phosphatase, a
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
✍ Scribed by Gaetan Lesca; Nadia Boutry-Kryza; Bertrand De Toffol; Mathieu Milh; Dominique Steschenko; Martine Lemesle-Martin; Louis Maillard; Giovanni Foletti; Gabrielle Rudolf; Jørgen Erik Nielsen; Bjarke á Rogvi-Hansen; Jesper Erdal; Josette Mancini; Christel Thauvin-Robinet; Amel M’Rrabet; Dorothée Ville; Pierre Szepetowski; Emmanuel Raffo; Edouard Hirsch; Philippe Ryvlin; Alain Calender; Pierre Genton
- Book ID
- 109112816
- Publisher
- Wiley (Blackwell Publishing)
- Year
- 2010
- Tongue
- English
- Weight
- 508 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0013-9580
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Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from