scholarly journals An Unusual Case of Infantile Spasms Due to a Pathogenic Variant in the MECP2 Gene

2019 ◽  
Vol 18 (01) ◽  
pp. 039-044
Author(s):  
Behshad Charkhand ◽  
Natarie Liu ◽  
Karlene T. Barrett ◽  
Walla Al-Hertani ◽  
Morris H. Scantlebury
Keyword(s):  
Unusual Case ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Mecp2 Gene ◽  
Disease Etiology ◽  
Epileptic Spasms ◽  
Uncertain Significance ◽  
Atypical Presentations ◽  
De Novo Variant

AbstractThe infantile spasms (IS) syndrome is a developmental epileptic encephalopathy disorder characterized by epileptic spasms occurring in infancy, hypsarrhythmia on the electroencephalography (EEG) and developmental arrest or regression. The etiologies include structural, metabolic, and genetic causes. We report an unusual case of IS due to a de novo variant in the MECP2 gene. The patient also had variants of uncertain significance in the SCN9A and SCN5A genes inherited from the father and mother, respectively. This report highlights the need for broad genetic testing in MECP2-related disorders with atypical presentations to better understand the disease etiology.

scholarly journals De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms

2018 ◽  
Vol 5 ◽  
pp. 2329048X1876773 ◽  
Author(s):  
Haolin Duan ◽  
Jing Peng ◽  
Miriam Kessi ◽  
Fei Yin
Keyword(s):  
Adrenocorticotropic Hormone ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Heterozygous Mutation ◽  
Interictal Spikes ◽  
Rare Type ◽  
Focal Seizures ◽  
First Case ◽  
New Association

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation. He presented with multifocal migratory partial seizures which started at the age of 8 days. Electroencephalogram examination revealed multifocal interictal spikes that migrated from one hemisphere to the other within a seizure. It was intractable with antiepileptic drugs and adrenocorticotropic hormone. He later developed spasms from the age of 8 months. Consequently, our case supports the new association between EIMFS and KCNQ2 mutations. Moreover, it enriches the disease phenotype because of transformation.

scholarly journals Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy

2021 ◽  
Vol 12 ◽  
Author(s):  
Pan Gong ◽  
Xianru Jiao ◽  
Dan Yu ◽  
Zhixian Yang
Keyword(s):  
De Novo ◽  
Gene Mutations ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Loss Of Function ◽  
Gain Of Function ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Ohtahara Syndrome ◽  
Whole Exome

Objective:KCNT2 gene mutations had been described to cause developmental and epileptic encephalopathies (DEEs). In this study, we presented the detailed clinical features and genetic analysis of two unrelated patients carrying two de novo variants in KCNT2 and reviewed eight different cases available in publications.Methods: Likely pathogenic variants were identified by whole exome sequencing; clinical data of the patients were retrospectively collected and analyzed.Results: Our two unrelated patients were diagnosed with Ohtahara syndrome followed by infantile spasms (IS) and possibly the epilepsy of infancy with migrating focal seizures (EIMFS), respectively. They both manifested dysmorphic features with hirsute arms, thick hair, prominent eyebrows, long and thick eyelashes, a broad nasal tip, and short and smooth philtrum. In the eight patients reported previously, two was diagnosed with IS carrying a ‘change-of-function' mutation and a gain-of-function mutation, respectively, two with EIMFS-like carrying a gain-of-function mutation and a loss-of-function mutation, respectively, one with EIMFS carrying a loss-of-function mutation, three with DEE without functional analysis. Among them, two patients with gain-of-function mutations both exhibited dysmorphic features and presented epilepsy phenotype, which was similar to our patients.Conclusion: Overall, the most common phenotypes associated with KCNT2 mutation were IS and EIMFS. Epilepsy phenotype associated with gain- and loss-of-function mutations could overlap. Additional KCNT2 cases will help to make genotype-phenotype correlations clearer.

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing

2016 ◽  
Vol 59 (2) ◽  
pp. 70-74 ◽  
Author(s):  
Natalia Babkina ◽  
Joshua L. Deignan ◽  
Hane Lee ◽  
Eric Vilain ◽  
Raman Sankar ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
De Novo Variant

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy

2021 ◽  
Author(s):  
Małgorzata Rydzanicz ◽  
Piotr Zwoliński ◽  
Piotr Gasperowicz ◽  
Agnieszka Pollak ◽  
Grażyna Kostrzewa ◽  
...  
Keyword(s):  
De Novo ◽  
Epileptic Encephalopathy ◽  
De Novo Variant

scholarly journals Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report

2021 ◽  
Vol 16 (1-2) ◽  
pp. 69-75
Author(s):  
N. G. Lyukshina ◽  
A. A. Sharkov ◽  
E. N. Tolmacheva
Keyword(s):  
De Novo ◽  
Cerebellar Atrophy ◽  
Epileptic Encephalopathy ◽  
De Novo Mutation ◽  
Heterozygous Mutation ◽  
Normal Brain ◽  
Facial Phenotype ◽  
Clonic Seizures ◽  
De Novo Variant ◽  
Normal Brain Development

Developmental encephalopathy with epilepsy or epileptic encephalopathy, associated with a heterozygous mutation in the IRF2BPL gene, is a rare severe disorder. It’s manifested by developmental delay or regression of skills until or after epilepsy onset. Patients have a specific facial phenotype, movement disorders with dystonia and choreoathetosis, ataxia, dysarthria, dysmetria, and dysdiadochokinesis. Epilepsy is a common manifestation of the disease (around 70 % of cases), from the age of 6 months to 26 years. Semiology of seizures is vary, including infantile spasms, myoclonic, tonic or clonic seizures with nonspecific electroencephalographic changes. magnetic resonance imaging shows normal brain development at an early age and cortical and cerebellar atrophy developing over time. The authors present a clinical case describing a patient with a causative de novo variant (c.2152delT) in the IRF2BPL gene in Russia.This patient was included to common table in an article entitled “De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy” (DOI: 10.1038/s41436-018-0143-0).

Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

2020 ◽  
Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  
Keyword(s):  
Late Onset ◽  
Neurodevelopmental Disorder ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
The Past ◽  
Resource Limited ◽  
The Central Nervous System ◽  
Motor Milestone ◽  
Behavior And Cognition ◽  
Atypical Rett Syndrome

Abstract Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with atypical Rett phenotype and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.

De Novo variant in GNB2 associated with neurodevelopmental disease

2021 ◽  
Vol 132 ◽  
pp. S282
Author(s):  
Florencia del Viso ◽  
Lisa Lansdon ◽  
Emily Fleming ◽  
Bonnie Sullivan ◽  
Carol Saunders
Keyword(s):  
De Novo ◽  
Neurodevelopmental Disease ◽  
De Novo Variant
Sign in / Sign up

Export Citation Format

Share Document