Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data

2013 ◽  
Vol 15 (2) ◽  
pp. 158-165 ◽  
Author(s):  
Domenico Serino ◽  
Nicola Specchio ◽  
Giuseppe Pontrelli ◽  
Federico Vigevano ◽  
Lucia Fusco
Keyword(s):  
Case Report ◽  
Epileptic Encephalopathy ◽  
Video Eeg

scholarly journals GABRB3 mutation as a cause of Ohtahara syndrome: A case report

2021 ◽  
pp. 480-481
Author(s):  
Mohini Bhelo ◽  
Harshita Jagwani ◽  
Swapan Mukherjee ◽  
Hriday De ◽  
Apurbo Ghosh
Keyword(s):  
Case Report ◽  
Neonatal Period ◽  
Male Infant ◽  
Epileptic Encephalopathy ◽  
Heterozygous Mutation ◽  
Intractable Seizures ◽  
Ohtahara Syndrome ◽  
Burst Pattern ◽  
Electroencephalogram Eeg ◽  
Video Eeg

Ohtahara syndrome (OS) is a rare early infantile epileptic encephalopathy that is characterized by an abnormal electroencephalogram (EEG) and intractable seizures. The patient of this reported case is a 4-month-old male infant delivered by cesarean section with an uneventful antenatal and neonatal period. At 2 months of age, he developed seizures that were refractory to anticonvulsants. Prolonged video EEG showed a characteristic suppression-burst pattern. We report an infant OS associated with heterozygous mutation in the GABRB3 gene.

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

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

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.

Repetitive focal seizures evolving into ictal asystole: a case report with 18 seizures during video-EEG monitoring

2021 ◽  
Vol 23 (6) ◽  
pp. 937-939
Author(s):  
Anna Stefánsdóttir ◽  
Anne Sabers ◽  
Annette Sidaros ◽  
György Rásonyi ◽  
Noémi Becser Andersen ◽  
...  
Keyword(s):  
Case Report ◽  
Eeg Monitoring ◽  
Focal Seizures ◽  
Video Eeg

P460: Electroencephalography and clinical findings in a SCN8A epileptic encephalopathy: a case report

2014 ◽  
Vol 125 ◽  
pp. S171
Author(s):  
U. Vaher ◽  
M. Nõukas ◽  
A. Napa ◽  
A. Metspalu ◽  
T. Talvik
Keyword(s):  
Case Report ◽  
Epileptic Encephalopathy ◽  
Clinical Findings

Case report: Mutation in CHD 2 gene in a patient with neonatal onset epileptic encephalopathy

2017 ◽  
Vol 21 ◽  
pp. e194
Author(s):  
A. Troha Gergeli ◽  
T. Golli ◽  
S. Bertok ◽  
D. Neubauer ◽  
Z. Rener Primc ◽  
...  
Keyword(s):  
Case Report ◽  
Epileptic Encephalopathy ◽  
Neonatal Onset

scholarly journals Post-ictal atrial fibrillation detected during video-EEG monitoring: Case report, proposed physiopathologic mechanism and therapeutic considerations

2017 ◽  
Vol 8 ◽  
pp. 40-43 ◽  
Author(s):  
Alvaro Sanchez-Larsen ◽  
Gemma Aznar-Lain ◽  
Begoña Benito ◽  
Alessandro Principe ◽  
Miguel Ley ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Case Report ◽  
Eeg Monitoring ◽  
Therapeutic Considerations ◽  
Video Eeg

scholarly journals A Case Report of 2.5 Years Old, Male Child with Megalencephaly with Mental Retardation, Seizure Disorder, and GERD

2018 ◽  
pp. 8-12
Author(s):  
Edwin Dias
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Seizure Disorder ◽  
Male Child ◽  
Mri Brain ◽  
Scalp Eeg ◽  
Normal Limits ◽  
Video Eeg

A child of 2.5 years old had an intractable seizure, clinically had megalencephaly and mental retardation. On evaluation, video EEG showed fronto-central seizures and dysfunction R 1, scalp EEG showed bilateral paroxysmal bursts, MRI brain showed prominent vascular spaces in the hemisphere, GE reflux scan showed GERD. Other investigations were within normal limits. The child was treated with antiepileptics and antireflux measures and also rehabilitation.

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