Progressive myoclonic epilepsy

[1]. Alexander G Bassuk, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83(5):572-81. [Content Brief]

[2]. Edoardo Ferlazzo, et al. Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment. Mov Disord. 2009 May 15;24(7):1016-22. [Content Brief]

[3]. Hirotaka Tao, et al. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011 Feb 11;88(2):138-49. [Content Brief]

[4]. John A Damiano, et al. Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. [Content Brief]

[5]. Julie Turnbull, et al. Early-onset Lafora body disease. Brain. 2012 Sep;135(Pt 9):2684-98. [Content Brief]

[6]. Kohei Hamanaka, et al. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):549-558. [Content Brief]

[7]. Laure Mazzola, et al. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. Ann Neurol. 2021 Feb;89(2):402-407. [Content Brief]

[8]. Mark A Corbett, et al. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet. 2011 May 13;88(5):657-63. [Content Brief]

[9]. Mikko Muona, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan;47(1):39-46. [Content Brief]

[10]. Nivetha Ramachandran, et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia. 2009 May;50 Suppl 5:29-36. [Content Brief]

[11]. P Satishchandra, et al. Progressive myoclonic epilepsy. Neurol India. 2010 Jul-Aug;58(4):514-22. [Content Brief]

[12]. Régis Azizieh, et al. Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. Mol Neurobiol. 2011 Aug;44(1):111-21. [Content Brief]