scholarly journals Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

2014 ◽  
Vol 5 (1) ◽  
Author(s):  
Hongjie Yuan ◽  
Kasper B. Hansen ◽  
Jing Zhang ◽  
Tyler Mark Pierson ◽  
Thomas C. Markello ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Missense Mutation ◽  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

2018 ◽  
Vol 22 (3) ◽  
pp. 516-524 ◽  
Author(s):  
Naama Orenstein ◽  
Hadassa Goldberg-Stern ◽  
Rachel Straussberg ◽  
Lily Bazak ◽  
Monika Weisz Hubshman ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Missense Mutation ◽  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Choreiform Movement

A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy

2019 ◽  
Vol 50 (03) ◽  
pp. 197-201
Author(s):  
S. Schmid ◽  
M. Wagner ◽  
C. Goetz ◽  
C. Makowski ◽  
P. Freisinger ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Missense Mutation ◽  
De Novo ◽  
Mitochondrial Fission ◽  
Refractory Status Epilepticus ◽  
Sudden Onset ◽  
Epileptic Encephalopathy ◽  
Neurologic Outcome ◽  
Dominant Negative Mutation ◽  
Refractory Status

AbstractMitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome. We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L.

P15 – 1733 A novel SCN2A missense mutation in a Slovenian girl with early-onset epileptic encephalopathy

2013 ◽  
Vol 17 ◽  
pp. S58
Author(s):  
B Gnidovec Strazisar ◽  
K Writzl ◽  
D Paro Panjan ◽  
D Neubauer ◽  
K Nakamura ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Epileptic Encephalopathy

scholarly journals A Novel Heterozygous Missense Variant in YWHAG Gene Cause Early-Onset Epilepsy in a Chinese Family

2020 ◽  
Author(s):  
Zhi Yi ◽  
Zhenfeng Song ◽  
Jiao Xue ◽  
Chengqing Yang ◽  
Fei Li ◽  
...  
Keyword(s):  
Early Onset ◽  
Seizure Control ◽  
De Novo ◽  
Missense Variant ◽  
Epileptic Encephalopathy ◽  
Chinese Family ◽  
Gene Variants ◽  
Case Presentation ◽  
Epileptic Encephalopathies ◽  
Refractory Seizures

Abstract Background: Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of severe disorders which are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes for them. De novo variants in an increasing number of candidate genes have been found to be causal. YWHAG gene variants have been reported to cause developmental and epileptic encephalopathy 56 (DEE56). Case presentation: Here, we report a novel heterozygous missense variant c.170G>A (p.R57H) in YWHAG gene cause early-onset epilepsy in a Chinese family. Both the proband and his mother exhibit early onset seizures, intellectual disability, developmental delay. While the proband achieve seizure control with sodium valproate, his mother's seizures were not well controlled. Conclusions: Our report further confirming the haploinsufficiency of YWHAG results in developmental and epileptic encephalopathies.

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 hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

2018 ◽  
Vol 83 (4) ◽  
pp. 794-806 ◽  
Author(s):  
Mitsuko Nakashima ◽  
Mitsuhiro Kato ◽  
Kazushi Aoto ◽  
Masaaki Shiina ◽  
Hazrat Belal ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy
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