A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

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

European Journal of Paediatric Neurology ◽

10.1016/s1090-3798(13)70194-6 ◽

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

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

10.21203/rs.3.rs-136482/v1 ◽

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.

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A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy

PP01.2 – 2772: Whole exome sequencing in 41 cases of early-onset epileptic encephalopathy

Faculty Opinions recommendation of Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

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Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

Correction to: Perampanel treatment in early-onset epileptic encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-up

Perampanel treatment in Early-onset Epileptic Encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-up

A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

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

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

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