Sporadic progressive myoclonic epilepsy with early‐onset dementia caused by a de novo mutation in PSEN1

2019 ◽  
Vol 7 (5) ◽  
pp. 294-296
Author(s):  
Tomoya Taminato ◽  
Manabu Araki ◽  
Noriko Sato ◽  
Hiroyuki Ishiura ◽  
Jun Mitsui ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Myoclonic Epilepsy ◽  
De Novo Mutation ◽  
Early Onset Dementia ◽  
Progressive Myoclonic Epilepsy

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

2017 ◽  
Vol 39 (3) ◽  
pp. 256-260 ◽  
Author(s):  
Tomokazu Kimizu ◽  
Yukitoshi Takahashi ◽  
Taikan Oboshi ◽  
Asako Horino ◽  
Takayoshi Koike ◽  
...  
Keyword(s):  
Clinical Features ◽  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
De Novo Mutation

scholarly journals De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

2020 ◽  
Vol 106 (4) ◽  
pp. 549-558
Author(s):  
Kohei Hamanaka ◽  
Eri Imagawa ◽  
Eriko Koshimizu ◽  
Satoko Miyatake ◽  
Jun Tohyama ◽  
...  
Keyword(s):  
De Novo ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

scholarly journals De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

2007 ◽  
Vol 78 (12) ◽  
pp. 1411-1413 ◽  
Author(s):  
M Cannella ◽  
T Martino ◽  
M Simonelli ◽  
A Ciammola ◽  
R Gradini ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Prnp Gene ◽  
Italian Patient ◽  
Early Onset Dementia

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

Neurology ◽  
2003 ◽  
Vol 61 (8) ◽  
pp. 1136-1137 ◽  
Author(s):  
F. Portet ◽  
Y. Dauvilliers ◽  
D. Campion ◽  
G. Raux ◽  
J.J. Hauw ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
De Novo Mutation ◽  
Presenilin 1

scholarly journals De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

2009 ◽  
Vol 2009 (jan27 1) ◽  
pp. bcr0820080711-bcr0820080711 ◽  
Author(s):  
M Cannella ◽  
T. Martino ◽  
M. Simonelli ◽  
A. Ciammola ◽  
R. Gradini ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Prnp Gene ◽  
Italian Patient ◽  
Early Onset Dementia

A de novo mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset hypertension

2019 ◽  
Vol 37 (8) ◽  
pp. 1731-1733
Author(s):  
Xiaoli Shi ◽  
Delin Ma ◽  
Mengni Li ◽  
Weijie Xu ◽  
Shuhong Hu ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Primary Hyperaldosteronism ◽  
De Novo Mutation

Early-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3

2010 ◽  
Vol 24 (4) ◽  
pp. 207-215 ◽  
Author(s):  
Nadire Duru ◽  
Sibel Aylin Ugur Iseri ◽  
Nilgün Selç ◽  
Aslıhan Tolun
Keyword(s):  
Early Onset ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

scholarly journals Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer’s Disease

2019 ◽  
Vol 10 (4) ◽  
pp. 908 ◽  
Author(s):  
Yu-Sheng Li ◽  
Zhi-Hua Yang ◽  
Yao Zhang ◽  
Jing Yang ◽  
Dan-Dan Shang ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
De Novo ◽  
De Novo Mutation ◽  
Novel Mutations ◽  
Early Onset Alzheimer’S Disease

Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene

2021 ◽  
pp. 1-6
Author(s):  
Guillermo González-Ortega ◽  
Sara Llamas-Velasco ◽  
Ana Arteche-López ◽  
Juan Francisco Quesada-Espinosa ◽  
Verónica Puertas-Martín ◽  
...  
Keyword(s):  
Behavioral Problems ◽  
Early Onset ◽  
De Novo ◽  
Clinical Course ◽  
Intellectually Disabled ◽  
Early Onset Dementia ◽  
Domain Protein ◽  
Neurodevelopment Disorders ◽  
De Novo Variant ◽  
Etiologic Study

The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND includes patients with intellectual disability, behavioral problems, and seizures with a static clinical course. However, a few reports have suggested regression. We describe a non-intellectually disabled female, with previous epilepsy and personality disorder, who developed early-onset dementia. The extensive etiologic study revealed a heterozygous nonsense de novo pathogenic variant in the MBD5 gene. This finding could support including the MBD5 gene in the study of patients with atypical early-onset dementia.

Sign in / Sign up

Export Citation Format

Share Document