Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype
NH Akçakaya, G Haryanyan, S Mercan… - Neurologia i …, 2019 - journals.viamedica.pl
Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases:
mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic …
mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic …
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey
G Haryanyan, O Ozdemir, K Tutkavul… - Journal of human …, 2021 - nature.com
Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an
autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or …
autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or …
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings
Developmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic
disorders characterized by varying degree of intellectual disability, autism spectrum, …
disorders characterized by varying degree of intellectual disability, autism spectrum, …
[HTML][HTML] Distinct gene-set burden patterns underlie common generalized and focal epilepsies
Background Analyses of few gene-sets in epilepsy showed a potential to unravel key
disease associations. We set out to investigate the burden of ultra-rare variants (URVs) in a …
disease associations. We set out to investigate the burden of ultra-rare variants (URVs) in a …
Analysis of rare copy number variation in absence epilepsies
L Addis, RE Rosch, A Valentin, A Makoff… - Neurology …, 2016 - AAN Enterprises
Objective: To identify shared genes and pathways between common absence epilepsy (AE)
subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and …
subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and …
Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11
A Keylock, Y Hong, D Saunders, E Omoyinmi… - Neurology, 2018 - AAN Enterprises
Heterozygous mutations in the MYH11 gene affecting the C-terminal coiled-coil region of
the smooth muscle myosin heavy chain, a contractile protein of smooth muscle cells (SMC), …
the smooth muscle myosin heavy chain, a contractile protein of smooth muscle cells (SMC), …
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Objective: We examined whether copy number variants (CNVs) were more common in
those with a combination of intellectual disability (ID) and genetic generalized epilepsy (GGE) …
those with a combination of intellectual disability (ID) and genetic generalized epilepsy (GGE) …
[DOC][DOC] Supporting materials
S Table - pure.mpg.de
table of LDSC genetic correlation analyses (p1= phenotype 1; p2= phenotype 2; rg= genetic
correlation; se= standard error; z= z-score; p= p-value; h2_obs, h2_obs_se= observed scale …
correlation; se= standard error; z= z-score; p= p-value; h2_obs, h2_obs_se= observed scale …
MeCP2 mutations in children with and without the phenotype of Rett syndrome
K Hoffbuhr, JM Devaney, B LaFleur, N Sirianni… - Neurology, 2001 - AAN Enterprises
Background: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations
in the X-linked methyl CpG binding protein 2 (MeCP2) gene. Methods: One hundred sixteen …
in the X-linked methyl CpG binding protein 2 (MeCP2) gene. Methods: One hundred sixteen …
Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization
DH Chen, C Latimer, M Yagi… - Neurology …, 2020 - AAN Enterprises
Objective To identify the genetic cause of autosomal dominant ataxia complicated by
behavioral abnormalities, cognitive decline, and autism in 2 families and to characterize brain …
behavioral abnormalities, cognitive decline, and autism in 2 families and to characterize brain …