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Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14.
Am J Hum Genet. 2012.
PMID: 22703880
Free PMC article.
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.
Giráldez BG, Guerrero-López R, Ortega-Moreno L, Verdú A, Carrascosa-Romero MC, García-Campos Ó, García-Muñozguren S, Pardal-Fernández JM, Serratosa JM.
Giráldez BG, et al.
Neuromuscul Disord. 2015 Mar;25(3):222-4. doi: 10.1016/j.nmd.2014.11.007. Epub 2014 Nov 22.
Neuromuscul Disord. 2015.
PMID: 25578555
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Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
Rubboli G, Veggiotti P, Pini A, Berardinelli A, Cantalupo G, Bertini E, Tiziano FD, D'Amico A, Piazza E, Abiusi E, Fiori S, Pasini E, Darra F, Gobbi G, Michelucci R.
Rubboli G, et al.
Epilepsia. 2015 May;56(5):692-8. doi: 10.1111/epi.12977. Epub 2015 Apr 3.
Epilepsia. 2015.
PMID: 25847462
Free article.
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Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation.
Oguz Akarsu E, Tekturk P, Yapici Z, Tepgec F, Uyguner ZO, Baykan B.
Oguz Akarsu E, et al.
Seizure. 2016 Nov;42:49-51. doi: 10.1016/j.seizure.2016.09.007. Epub 2016 Sep 23.
Seizure. 2016.
PMID: 27723502
Free article.
No abstract available.
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