Epileptic myoclonus can be defined as an elementary electroclinical manifestation of epilepsy involving descending neurons, whose spatial (spread) or temporal (self-sustained repetition) amplification can trigger overt epileptic activity and can be classified as cortical (positive and negative), secondarily generalized, thalamo-cortical, and reticular. Cortical epileptic myoclonus represents a fragment of partial or symptomatic generalized epilepsy; thalamo-cortical epileptic myoclonus is a fragment of idiopathic generalized epilepsy. Reflex reticular myoclonus represents the clinical counterpart of fragments of hypersynchronous epileptic activity of neurons in the brainstem reticular formation. Epileptic myoclonus, in the setting of an epilepsy syndrome, can be only one component of a seizure, the only seizure manifestations, one of the multiple seizure types or a more stable condition that is manifested in a nonparoxysmal fashion and mimics a movement disorder. This complex correlation is more obvious in patients with epilepsia partialis continua in which cortical myoclonus and overt focal motor seizures usually start in the same somatic (and cortical) region. In patients with cortical tremor this correlation is less obvious and requires neurophysiological studies to be demonstrated.
The term epileptic encephalopathy refers to the condition where epileptic activity, clinical or subclinical, is thought to be responsible for any disturbance of cognition, behavior, or motor control. Although currently described as a concept that may occur in any of the epilepsies, children with the severe early onset epilepsies are thought to be more at risk than others. These epilepsies have been termed the “epileptic encephalopathies.” The degree to which epileptic activity is responsible for neurodevelopmental compromise may be variable in each individual case, and the degree to which this may be reversible unclear. Data from the laboratory and the clinic may provide greater insight into the degree to which epileptic activity may contribute in individual syndromes, although much is yet to be learnt. The aim in epilepsy management remains one of seizure control; in some specific circumstances this may include subclinical epileptic activity. However, avoidance of treatment that may lead to deterioration of seizure control may be equally important.
Since 1984, the year of the publication of its first edition, the famous “Blue Guide” has been the international reference for paediatricians and neuropaediatricians with regard to epileptic syndromes in infants, children and adolescents. This 6th edition reviews some of the most noteworthy developments in the field, particularly in epileptic syndromes, but also focuses on the genetic aspects of the syndromes and their development. Progress brought about by advances in neuroimaging is also discussed in addition to specific etiologies such as parasitic diseases and immune and autoimmune diseases. The different backgrounds of the contributors - coordinators and authors – ensure that the book’s longstanding reputation for objectivity and seriousness, built over almost 35 years, remain well-deserved. This book written by the current leading specialists is recognized worldwide as the international reference in epilepsy.
Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings.
Since its first description (1841) the identity of West syndrome was deeply investigated and is now recognized as an epileptic syndrome in infancy (ILAE Task Force, 1989). West syndrome has become a paradigmatic model of an epileptic syndrome causing neurological deterioration (epileptic encephalopathy) and the object of a number of studies aimed at understanding the complex relationships between an epileptic disorder and neurodevelopment. Although the symptomatic triad (peculiar electrographic findings named hypsarrhythmia, brief tonic spasms, and arrest of psychomotor development) that characterizes the syndrome suggests a unique pathogenetic mechanism, causal heterogeneity heavily influences syndrome variability in terms of neurodevelopment, treatment choices, management and, possibly, electroclinical semiology. Important insights may arise for that might help developing models of epileptic encephalopathies in the basic sciences. However, a more immediate benefit may arise for clinicians in everyday practice. A group of clinical researchers recently met in Rome to discuss hot points concerning infantile spasms and West syndrome. Their contributions were collected and are presented in this book that we hope will contribute to the progress of knowledge of this paradigmatic epileptic disorder.
Every physician who treats children with epilepsy will welcome this new Third Edition of Dr. Aicardi's internationally acclaimed text. Now coauthored by three distinguished experts--Alexis Arzimanoglou, MD, Renzo Guerrini, MD, and Jean Aicardi, MD, FRCP--this edition has been completely revised to reflect the past ten years' advances in diagnosis and therapy. The book describes in detail the types of seizures occurring during infancy, childhood, and adolescence and explains the key principles of diagnosis, prognosis, and medical and surgical treatment. This edition provides up-to-the-minute information on anticonvulsant drugs and the genetics of epilepsy and includes a new chapter on epileptic encephalopathies.
This volume is the first comprehensive text and clinical reference on idiopathic myoclonic epilepsies of infancy, childhood, adolescence, and adulthood. The world's foremost experts describe the phenotypes and subtypes of myoclonic epilepsies and the underlying molecular defects and summarize cutting-edge advances in molecular genetics that shed new light on the etiologies of these syndromes. The book offers clinicians much-needed assistance in recognizing and diagnosing idiopathic myoclonic epilepsies and selecting appropriate treatment. Each chapter includes diagnostic and treatment algorithms to guide practitioners in clinical decision making. FEATURES: The most cutting-edge research summarised by world experts Algorithms for patient care in all chapters Recent genetic and molecular advances used to guide diagnosis and treatment
Since its first description (1841) the identity of West syndrome was deeply investigated and is now recognized as an epileptic syndrome in infancy (ILAE Task Force, 1989). West syndrome has become a paradigmatic model of an epileptic syndrome causing neurological deterioration (epileptic encephalopathy) and the object of a number of studies aimed at understanding the complex relationships between an epileptic disorder and neurodevelopment. Although the symptomatic triad (peculiar electrographic findings named hypsarrhythmia, brief tonic spasms, and arrest of psychomotor development) that characterizes the syndrome suggests a unique pathogenetic mechanism, causal heterogeneity heavily influences syndrome variability in terms of neurodevelopment, treatment choices, management and, possibly, electroclinical semiology. Important insights may arise for that might help developing models of epileptic encephalopathies in the basic sciences. However, a more immediate benefit may arise for clinicians in everyday practice. A group of clinical researchers recently met in Rome to discuss hot points concerning infantile spasms and West syndrome. Their contributions were collected and are presented in this book that we hope will contribute to the progress of knowledge of this paradigmatic epileptic disorder.
Since 1984, the year of the publication of its first edition, the famous “Blue Guide” has been the international reference for paediatricians and neuropaediatricians with regard to epileptic syndromes in infants, children and adolescents. This 6th edition reviews some of the most noteworthy developments in the field, particularly in epileptic syndromes, but also focuses on the genetic aspects of the syndromes and their development. Progress brought about by advances in neuroimaging is also discussed in addition to specific etiologies such as parasitic diseases and immune and autoimmune diseases. The different backgrounds of the contributors - coordinators and authors – ensure that the book’s longstanding reputation for objectivity and seriousness, built over almost 35 years, remain well-deserved. This book written by the current leading specialists is recognized worldwide as the international reference in epilepsy.
Epileptic myoclonus can be defined as an elementary electroclinical manifestation of epilepsy involving descending neurons, whose spatial (spread) or temporal (self-sustained repetition) amplification can trigger overt epileptic activity and can be classified as cortical (positive and negative), secondarily generalized, thalamo-cortical, and reticular. Cortical epileptic myoclonus represents a fragment of partial or symptomatic generalized epilepsy; thalamo-cortical epileptic myoclonus is a fragment of idiopathic generalized epilepsy. Reflex reticular myoclonus represents the clinical counterpart of fragments of hypersynchronous epileptic activity of neurons in the brainstem reticular formation. Epileptic myoclonus, in the setting of an epilepsy syndrome, can be only one component of a seizure, the only seizure manifestations, one of the multiple seizure types or a more stable condition that is manifested in a nonparoxysmal fashion and mimics a movement disorder. This complex correlation is more obvious in patients with epilepsia partialis continua in which cortical myoclonus and overt focal motor seizures usually start in the same somatic (and cortical) region. In patients with cortical tremor this correlation is less obvious and requires neurophysiological studies to be demonstrated.
Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings.
The term epileptic encephalopathy refers to the condition where epileptic activity, clinical or subclinical, is thought to be responsible for any disturbance of cognition, behavior, or motor control. Although currently described as a concept that may occur in any of the epilepsies, children with the severe early onset epilepsies are thought to be more at risk than others. These epilepsies have been termed the “epileptic encephalopathies.” The degree to which epileptic activity is responsible for neurodevelopmental compromise may be variable in each individual case, and the degree to which this may be reversible unclear. Data from the laboratory and the clinic may provide greater insight into the degree to which epileptic activity may contribute in individual syndromes, although much is yet to be learnt. The aim in epilepsy management remains one of seizure control; in some specific circumstances this may include subclinical epileptic activity. However, avoidance of treatment that may lead to deterioration of seizure control may be equally important.
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