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.

A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

2018 ◽  
Vol 07 (04) ◽  
pp. 148-151 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Abrar Hudairi ◽  
Malak Al Ghamdi ◽  
Adel A. Mahmoud
Keyword(s):  
Ketogenic Diet ◽  
Treatment Modality ◽  
Genetic Diagnosis ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Intractable Seizures ◽  
Ohtahara Syndrome ◽  
Newborn Girl ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

AbstractNeonatal seizures may have multiple causes including metabolic and genetic etiologies. If a genetic diagnosis is known, it can guide the physician to choose the most appropriate treatment modality. SCN2A mutation is a rare cause of epileptic encephalopathy in the neonatal age group. It has a wide phenotypic variation, ranging from benign familial epilepsy to a malignant form of epilepsy. This mutation has been associated with Ohtahara syndrome, migrating focal seizures of infancy, West syndrome, Lennox–Gastaut syndrome, and generalized epilepsy with febrile seizures plus. We present the case of a newborn girl who presented with multiple types of seizures, starting at the age of 3 days. Our initial investigations were not able to identify the etiology of her intractable seizures. Whole exome sequencing confirmed an SCN2A mutation. Various antiepileptic drugs (AEDs), including phenobarbitone, phenytoin, levetiracetam, topiramate, vigabatrin, carbamazepine, clonazepam, and mexiletine, were tried. However, none provided an optimal response. She ultimately showed a dramatic response to the ketogenic diet (KD). This report highlights the effectiveness of the KD as a treatment modality for SCN2A mutation-related epileptic encephalopathy, particularly when seizures are intractable and unresponsive to conventional AEDs.

scholarly journals The Role of Epilepsy Surgery in the Treatment of Childhood Epileptic Encephalopathy

2013 ◽  
Vol 2013 ◽  
pp. 1-6
Author(s):  
Husam R. Kayyali ◽  
Ahmed Abdelmoity ◽  
Saleh Baeesa
Keyword(s):  
Clinical Features ◽  
Developmental Disability ◽  
Epilepsy Surgery ◽  
Surgical Approach ◽  
Brain Function ◽  
Brain Lesion ◽  
Epileptic Encephalopathy ◽  
Intractable Seizures ◽  
Electroencephalogram Eeg

Children with epileptic encephalopathy often have global impairment of brain function and frequent intractable seizures, which contribute further to their developmental disability. Many of these children have identifiable brain lesion on neurological imaging. In such cases, epilepsy surgery may be considered as a treatment option despite the lack of localized epileptic pattern on electroencephalogram (EEG). In this paper, we summarize the clinical features of epileptic encephalopathy syndromes and review the reported literature on the surgical approach to some of these disorders.

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

KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate

2020 ◽  
Author(s):  
Chit Kwong ◽  
Ho Ming ◽  
Suet Na
Keyword(s):  
Viral Infection ◽  
Early Onset ◽  
Vitamin B6 ◽  
Neonatal Period ◽  
Epileptic Encephalopathy ◽  
Neonatal Seizure ◽  
Eeg Monitoring ◽  
Epileptiform Discharges ◽  
Wide Range ◽  
Electroencephalogram Eeg

Abstract KCNQ2 mutations encompass a wide range of phenotypes, ranging from benign familial neonatal seizure to a clinical spectrum of early-onset epileptic encephalopathy that occurs in the early neonatal period. We report an infant with KCNQ2 encephalopathy presenting as neonatal seizure, initially controlled by two anticonvulsants. Electroencephalogram (EEG) showed repetitive multifocal epileptiform discharges, which remained similar after administration of intravenous pyridoxine injection. Seizure recurred at the age of 3 months preceded by an episode of minor viral infection, which occurred multiple times per day. No significant change in seizure frequency was observed after 5-day oral pyridoxine trial, but subsequently, there was dramatic seizure improvement with oral pyridoxal-5′-phosphate (PLP). We hope to alert clinicians that in patients with neonatal epileptic encephalopathy, particularly with known KCNQ2 mutations, intravenous injection of pyridoxine (preferably with EEG monitoring), followed by both oral trial of pyridoxine and PLP should be considered. KCNQ2 mutations should also be considered in vitamin B6-responsive patients.

Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome)

2001 ◽  
Vol 23 (7) ◽  
pp. 708-714 ◽  
Author(s):  
Lucia Fusco ◽  
Christa Pachatz ◽  
Matteo Di Capua ◽  
Federico Vigevano
Keyword(s):  
Epileptic Encephalopathy ◽  
Ohtahara Syndrome ◽  
Video Eeg

scholarly journals SCN8A Encephalopathy: Case Report and Literature Review

2021 ◽  
Vol 13 (2) ◽  
pp. 143-150
Author(s):  
Hueng-Chuen Fan ◽  
Hsiu-Fen Lee ◽  
Ching-Shiang Chi
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Missense Mutations ◽  
Resonance Imaging ◽  
Biochemical Tests ◽  
Genetic Sequencing ◽  
Intractable Seizures ◽  
Main Voltage ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg

Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the main voltage-gated sodium channel subunits in neurons and muscles, have been linked to early infantile SCN8A encephalopathy. Herein, we report the case of a 5-month-old girl with SCN8A encephalopathy with a novel missense mutation. Apart from intractable seizures and autistic phenotypes, the results of blood and biochemical tests, electroencephalogram (EEG) results, and brain magnetic resonance imaging (MRI) results were all normal. As the phenotypes caused by these mutations cannot be identified by any clinical, neuroimaging, or electrophysiological features, genetic sequencing should be considered to identify the underlying genetic causes. Although phenytoin is recommended as a last-resort treatment for SCN8A encephalopathy, the administration of the oxcarbazepine, instead of phenytoin, mitigated this patient’s intractable seizures.

scholarly journals CONGENITAL DIAPHRAGMATIC HERNIA

2010 ◽  
Vol 17 (03) ◽  
pp. 516-519
Author(s):  
MEHRSIMA ABDOLLAHZADEH ◽  
FARNOUSH FARZI ◽  
MOHAMMAD HOSSEIN GHORBANI ◽  
Sasan Bozorgi Far
Keyword(s):  
Case Report ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Neonatal Period ◽  
Late Onset ◽  
Case Reports ◽  
Anesthetic Management ◽  
Gastrointestinal Symptoms ◽  
Male Infant ◽  
Pediatric Hospital

We report a case of late-presenting congenital diaphragmatic hernia (CDH) in a three-month-old male infant presenting to the pediatric hospital with attacks of cough and cyanosis .Although CDH is usually manifested on the first day of life, there are a number of case reports of late-presenting CDH usually presenting with respiratory or gastrointestinal symptoms. In this case report, we have focused on the anesthetic management of late-presenting CDH. Text: Congenital diaphragmatic hernia is usually manifested on the first days of life as respiratory distress and a scaphoid abdomen. The abnormality is herniation of the abdominal viscera through a defect in the diaphragm, most commonly the foramen of Bochdalek on the left side1. These infants often have a dramatic presentation3, in contrast, late onset or late- presenting CDHs present outside the neonatal period with variable signs and symptoms4. We describe a case of late-presenting CDH that referred to the pediatric hospital with attacks of cough and cyanosis.

Normal Neonatal Electroencephalogram at a Glance

2020 ◽  
Vol 34 (4) ◽  
pp. 236-240
Author(s):  
Alberto M. Cappellari
Keyword(s):  
Health Care Professionals ◽  
Neonatal Intensive Care ◽  
Neonatal Period ◽  
Rapid Evolution ◽  
Essential Elements ◽  
Brain Maturation ◽  
Rich Variety ◽  
Physiological Markers ◽  
Electroencephalogram Eeg ◽  
Provide Health Care

Interpreting neonatal electroencephalogram (EEG) presents a challenge owing to rapid evolution of EEG patterns occurring during brain maturation in the neonatal period and rich variety of normal patterns of EEG activity, which is difficult to categorize completely. Furthermore, the description of some aspects during maturation varies in different studies. Neonatal EEG is unfamiliar to most neurologists, and its interpretation requires knowledge of the physiological markers of electrogenesis maturation. The purpose of this review was to provide health-care professionals in the neonatal intensive care unit with guidance on the more common normal maturational features of the neonatal EEG. A simplified layout with the essential elements of normal neonatal EEG is included.

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