Inherited Epilepsies of Childhood

1994 ◽  
Vol 9 (1_suppl) ◽  
pp. S12-S19 ◽  
Author(s):  
Jeffrey R. Buchhalter
Keyword(s):  
Age Of Onset ◽  
Juvenile Myoclonic Epilepsy ◽  
Seizure Type ◽  
Epilepsy Syndrome ◽  
Onset Seizure ◽  
Juvenile Form ◽  
Myoclonus Epilepsy ◽  
Neonatal Convulsions ◽  
Merrf Syndrome

Recent advances in neuroepidemiologic and molecular biological techniques have facilitated a growing understanding of the role that inherited factors play in epileptogenesis. During the last few years linkage analysis has mapped gene loci associated with the following epilepsy syndromes: benign familial neonatal convulsions, juvenile myoclonic epilepsy, Unverricht-Lundborg/Baltic/Mediterranean progressive myoclonic epilepsies, the juvenile form of ceroid lipofuscinosis, sialidosis I, and the myoclonus epilepsy with ragged red fibers (MERRF) syndrome. In addition, characterization of the inheritance patterns of other syndromes such as childhood epilepsy with occipital paroxysms and febrile convulsions has improved. It is apparent that a significant amount of clinical and genetic heterogeneity exists, which emphasizes the importance of accurate clinical classification. As genetic markers are found for well-defmed groups of patients, traditional means of classification (seizure type, pathologic markers, progressive course, etc.) become less meaningful. It is proposed that the components of the phenotype of an epilepsy syndrome (eg, age of onset, seizure type, electroencephalographic pattern) may be controlled by multiple genes. (J Child Neurol 1994;9(Suppl)S12-S19).

Clinical and Genetic Profile of Autism Spectrum Disorder–Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

2020 ◽  
Vol 51 (6) ◽  
pp. 390-398 ◽  
Author(s):  
Sudhakar Karunakaran ◽  
Ramshekhar N. Menon ◽  
Sruthi S. Nair ◽  
S. Santhakumar ◽  
Muralidharan Nair ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Age Of Onset ◽  
Focal Epilepsy ◽  
Diagnostic Yield ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosomal Microarray ◽  
Seizure Type ◽  
Epilepsy Syndrome ◽  
Genetic Profile

The clinical phenotype of autism spectrum disorder and epilepsy (ASD-E) is a common neurological presentation in various genetic disorders, irrespective of the underlying pathophysiological mechanisms. Here we describe the demographic and clinical profiles, coexistent neurological conditions, type of seizures, epilepsy syndrome, and EEG findings in 11 patients with ASD-E phenotype with proven genetic etiology. The commonest genetic abnormality noted was CDKL5 mutation (3), MECP2 mutation (2), and 1p36 deletion (2). The median age of onset of clinical seizures was 6 months (range, 10 days to 11 years). The most common seizure type was focal onset seizures with impaired awareness, observed in 7 (63.6%) patients followed by epileptic spasms in 4 (30.8%), generalized tonic-clonic and atonic seizures in 3 (27.3%) patients each and tonic seizures in 2 (18.2%) patients and myoclonic seizures in 1 (9.1%) patient. Focal and multifocal interictal epileptiform abnormalities were seen in 6 (54.6%) and 5 (45.5%) patients, respectively. Epileptic encephalopathy and focal epilepsy were seen in 7 (63.6%) and 4 (36.4%) patients, respectively. The diagnostic yield of genetic testing was 44% (11 of 25 patients) and when variants of unknown significance and metabolic defects were included, the yield increased to 60% (15 of 25 patients). We conclude that in patients with ASD-E phenotype with an underlying genetic basis, the clinical seizure type, epilepsy syndrome, and EEG patterns are variable. Next-generation exome sequencing and chromosomal microarray need to be considered in clinical practice as part of evaluation of children with ASD-E phenotype.

scholarly journals Diagnosis and Management of Epileptic Encephalopathies in Children

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Puneet Jain ◽  
Suvasini Sharma ◽  
Manjari Tripathi
Keyword(s):  
Age Of Onset ◽  
Epileptic Activity ◽  
Seizure Type ◽  
Onset Seizure ◽  
Epileptic Encephalopathies ◽  
Cerebral Dysfunction ◽  
Behavioral Impairments ◽  
Underlying Pathology ◽  
Eeg Pattern ◽  
Over Time

Epileptic encephalopathies refer to a group of disorders in which the unremitting epileptic activity contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone, and these can worsen over time leading to progressive cerebral dysfunction. Several syndromes have been described based on their electroclinical features (age of onset, seizure type, and EEG pattern). This review briefly describes the clinical evaluation and management of commonly encountered epileptic encephalopathies in children.

scholarly journals The Effect of Octapeptide Repeats on Prion Folding and Misfolding

2021 ◽  
Vol 22 (4) ◽  
pp. 1800
Author(s):  
Kun-Hua Yu ◽  
Mei-Yu Huang ◽  
Yi-Ru Lee ◽  
Yu-Kie Lin ◽  
Hau-Ren Chen ◽  
...  
Keyword(s):  
Amyloid Fibrils ◽  
Age Of Onset ◽  
Prion Diseases ◽  
Critical Role ◽  
Threshold Effect ◽  
Central Feature ◽  
Terminal Domain ◽  
Amyloid Aggregates

Misfolding of prion protein (PrP) into amyloid aggregates is the central feature of prion diseases. PrP has an amyloidogenic C-terminal domain with three α-helices and a flexible tail in the N-terminal domain in which multiple octapeptide repeats are present in most mammals. The role of the octapeptides in prion diseases has previously been underestimated because the octapeptides are not located in the amyloidogenic domain. Correlation between the number of octapeptide repeats and age of onset suggests the critical role of octapeptide repeats in prion diseases. In this study, we have investigated four PrP variants without any octapeptides and with 1, 5 and 8 octapeptide repeats. From the comparison of the protein structure and the thermal stability of these proteins, as well as the characterization of amyloids converted from these PrP variants, we found that octapeptide repeats affect both folding and misfolding of PrP creating amyloid fibrils with distinct structures. Deletion of octapeptides forms fewer twisted fibrils and weakens the cytotoxicity. Insertion of octapeptides enhances the formation of typical silk-like fibrils but it does not increase the cytotoxicity. There might be some threshold effect and increasing the number of peptides beyond a certain limit has no further effect on the cell viability, though the reasons are unclear at this stage. Overall, the results of this study elucidate the molecular mechanism of octapeptides at the onset of prion diseases.

scholarly journals Obsessive compulsive symptoms in patients with primary generalized and partial onset epilepsy

2018 ◽  
Vol 6 (4) ◽  
pp. 1183
Author(s):  
Sagar Lavania ◽  
Mohd. Aleem Siddiqui ◽  
Shantanu Bharti ◽  
Abhishek Kumar
Keyword(s):  
Clonic Seizure ◽  
Tonic Clonic Seizure ◽  
Seizure Type ◽  
Check List ◽  
Onset Seizure ◽  
Obsessive Compulsive ◽  
Obsessive Compulsive Symptoms ◽  
Partial Onset Seizure ◽  
The Mean ◽  
Patients With Epilepsy

Background: To find out and compare the obsessive-compulsive symptoms / disorder among patients of primary generalized and partial onset epilepsy.Methods: Patients with epilepsy diagnosed clinically at psychiatric out patient’s department were selected for the study and categorized as primary generalized onset tonic clonic seizure type and partial onset seizure. Yale-Brown obsessive-compulsive symptoms check list and scale was applied to find out the obsessive-compulsive symptoms.Results: A total of 110 patients were categorized as primary generalized (GE) 49 and partial onset epilepsy (PE) 61 patients. Obsessive-Compulsive Symptoms (OCS) were found to be 19.9%, and OCD among 3.63%. Mean Y-BOCS scores for obsession were found to be 3.77±1.93 and 4.93±2.03, (t = -3.034, df= 108, p= .003). Whereas the mean Y-BOCS compulsions score was 2.93±1.96 and 4.62±1.87 was (t = -4.590, df= 108, p= .000) for GE and PE group respectively.Conclusions: OCD and OCS among the epilepsy patients were found to be 3.63%, and 19.9% respectively, and significantly higher mean obsessive and compulsive score were found for the group of partial onset epilepsy.

Terminal remission is possible in some patients with juvenile myoclonic epilepsy without therapy

2014 ◽  
Vol 67 (11-12) ◽  
pp. 372-378 ◽  
Author(s):  
Nebojsa Jovic ◽  
Ana Kosac ◽  
Milos Babic
Keyword(s):  
Seizure Control ◽  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy ◽  
Seizure Type ◽  
Seizure Freedom ◽  
Seizure Onset ◽  
Antiepileptic Treatment ◽  
Therapy Withdrawal ◽  
Permanent Remission ◽  
Significant Factors

Introduction. Juvenile myoclonic epilepsy is considered to be a chronic disease requiring lifelong antiepileptic treatment. The aim of this study was both to identify factors predicting the kind of seizure control and to investigate the outcome in patients after therapy withdrawal. Material and Methods. The study included 87 patients (49 female, 38 male), aged from 17.5 to 43.5 years, referred to our Department between 1987 and 2008, with the seizure onset at the age of 14.3+2.9, and followed up for 13.3+5.8 years on average (from 5 to 23 years). Results. Sixty seven (77.0%) patients were fully controlled; whereas 13.8% had persistent seizures and 9.2% showed pseudoresistance. The combination of three seizure types and focal electroencephalogram features were independent factors of poor seizure control. Therapy was discontinued in 34 patients either by the treating physician (in 21 patients) or by the patients themselves (in 13 cases). In 18 subjects, all seizure types relapsed after 1.1 year on average (from 7 days to 4 years) and therapy was resumed in them. All patients but three (10/13), who stopped the treatment themselves, experienced recurrences. Seizure freedom off drugs was recorded in 10.3% patients. Nonintrusive myoclonic seizures recurred in 0.5-3 years as their only seizure type in four patients, but without reintroducing medication in three patients. Conclusion Combination of seizure types and focal electroencephalogram features are significant factors of pharmacoresistancy. Continuous pharmacotherapy is required in majority of patients, although about 10% of them appear to have permanent remission without therapy in adolescence.

Genetic generalized epilepsy

2016 ◽  
Author(s):  
Friederike Moeller ◽  
Ronit M. Pressler ◽  
J. Helen Cross
Keyword(s):  
Clinical Presentation ◽  
Age Of Onset ◽  
Juvenile Myoclonic Epilepsy ◽  
Absence Epilepsy ◽  
Childhood Absence Epilepsy ◽  
Juvenile Absence Epilepsy ◽  
Generalized Epilepsy ◽  
Treatment Prognosis ◽  
Electroencephalogram Eeg ◽  
Eeg Features

This chapter provides an overview of generalized epilepsies (GGE), which comprises a group of epilepsy syndromes of presumed genetic origin. They are classified into several syndromes according to their age, depending on clinical manifestation and associated electroencephalogram (EEG) features. The chapter introduces the concept of GGE before addressing different GGE syndromes, describing their clinical presentation, EEG features, treatment, prognosis, and underlying genetics. The following GGE syndromes are discussed in order of their age of onset—myoclonic astatic epilepsy, childhood absence epilepsy, epilepsy with myoclonic absences, eyelid myoclonia with absences, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic seizures on awakening. This is followed by an overview on pathophysiological mechanisms underlying GGE.

scholarly journals Risk factors influencing the outcomes in infants with epilepsy

2007 ◽  
Vol 47 (5) ◽  
pp. 202 ◽  
Author(s):  
Setyo Handryastuti ◽  
Irawan Mangunatmadja
Keyword(s):  
Risk Factors ◽  
Age Of Onset ◽  
Age At Onset ◽  
Epileptic Seizures ◽  
Neonatal Seizure ◽  
Epilepsy Syndrome ◽  
Developmental Status ◽  
Factors Influencing ◽  
History Of ◽  
Symptomatic Epilepsy

Background Epilepsy in young children should always beconsidered as a symptom of an underlying brain disease. Parentsand caregivers often asked whether the seizures can be controlledand whether the epilepsy will affect the child development.Objective To find out risk factors influencing the outcomes ininfants with epilepsy.Methods This was a retrospective study on infants aged 1 monthuntil 12 months with recurrent epileptic seizures. We looked forthe risk factors as sex, types of medication, age at onset of seizure,epilepsy syndrome, etiology of epilepsy, history of neonatal seizure,first EEG features, and type of seizure for the last 6 month-period.The outcomes evaluated were controlled seizure and developmentalstatus.Results Hundred forty infants with epilepsy were reviewed,consisted of 84 (60%) infants with symptomatic epilepsy, and 56(40%) infants categorized as idiopathic. Forty-six (33%) infantshad controlled seizure, while 94 (67%) infants had uncontrolledseizure. Abnormal developmental status was found in 75 infants(54%). Abnormal developmental status was more found in infantswith polytherapy, age at onset of 1-4 months, symptomaticepilepsy, positive remote symptomatic, history of neonatal seizure,abnormality of first EEG, and uncontrolled seizure. Uncontrolledseizure of epilepsy was more found in infants with polytherapy,early age at onset (1-4 month old), symptomatic epilepsy, positiveremote symptomatic, history of neonatal seizure, and abnormalityof first EEG.Conclusion Our data indicate that classifying syndrome of epilepsythrough diagnostic screening and age of onset are important todetermine the outcomes.

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