The Experts below are selected from a list of 8574 Experts worldwide ranked by ideXlab platform
Ingrid E Scheffer - One of the best experts on this subject based on the ideXlab platform.
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the genetic landscape of the epileptic encephalopathies of infancy and childhood
Lancet Neurology, 2016Co-Authors: Amy Mctague, Helen J Cross, Katherine B Howell, Manju A Kurian, Ingrid E SchefferAbstract:Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several Seizure Types, frequent epileptiform activity on EEG, and developmental slowing or regression. The encephalopathies include many age-related electroclinical syndromes with specific Seizure Types and EEG features. With the molecular revolution, the number of known monogenic determinants underlying the epileptic encephalopathies has grown rapidly. De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen. Several genes can cause one electroclinical syndrome, and, conversely, one gene might be associated with phenotypic pleiotropy. Diverse genetic causes and molecular pathways have been implicated, involving ion channels, and proteins needed for synaptic, regulatory, and developmental functions. Gene discovery provides the basis for neurobiological insights, often showing convergence of mechanistic pathways. These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders.
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Is the ketogenic diet effective in specific epilepsy syndromes
Epilepsy research, 2012Co-Authors: Srishti Nangia, Douglas R. Nordli, Roberto Caraballo, Hoon Chul Kang, Ingrid E SchefferAbstract:Is the ketogenic diet (KD) more effective in certain epilepsy syndromes? The KD has been shown to be effective in treating multiple Seizure Types and epilepsy syndromes. We review the effectiveness of the KD in Dravet syndrome, epilepsy with myoclonic-atonic Seizures, mitochondrial disease, tuberous sclerosis, late infantile and juvenile neuronal ceroid lipofuscinosis, and febrile infection-related epilepsy syndrome. In certain epilepsy syndromes, like epilepsy with myoclonic-atonic Seizures, the diet should be considered early in the course of treatment.
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severe myoclonic epilepsy of infancy dravet syndrome recognition and diagnosis in adults
Neurology, 2006Co-Authors: Floor E. Jansen, Lynette G Sadleir, Louise A Harkin, Lata Vadlamudi, Jacinta M Mcmahon, John C Mulley, Ingrid E Scheffer, Samuel Frank BerkovicAbstract:Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous Seizure Types with nocturnal generalized tonic-clonic Seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.
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Familial clustering of Seizure Types within the idiopathic generalized epilepsies.
Neurology, 2005Co-Authors: Melodie R. Winawer, Samuel Frank Berkovic, Carla Marini, Bronwyn E. Grinton, Daniel Rabinowitz, Ingrid E SchefferAbstract:Objective: To examine the genetic relationships among epilepsies with different Seizure Types—myoclonic, absence, and generalized tonic-clonic—within the idiopathic generalized epilepsies (IGEs). Background: Careful phenotype definition in the epilepsies may allow division into groups that share susceptibility genes. Examination of Seizure type, a phenotypic characteristic less complex than IGE syndrome, may help to define more homogeneous subgroups. Methods: Using the approach that found evidence of distinct genetic effects on myoclonic vs absence Seizures in families from the Epilepsy Family Study of Columbia University, the authors examined an independent sample of families from Australia and Israel. They also examined the familial clustering of generalized tonic-clonic Seizures (GTCs) within the IGEs in two combined data sets. Families were defined as concordant if all affected members had the same type of Seizure or IGE syndrome, as appropriate for the analysis performed. Results: The proportion of families concordant for myoclonic vs absence Seizures was greater than expected by chance in the Australian families. In addition, GTCs clustered in families with IGEs to a degree greater than expected by chance. Conclusions: These results provide additional evidence for distinct genetic effects on myoclonic vs absence Seizures in an independent set of families and suggest that there is a genetic influence on the occurrence of generalized tonic-clonic Seizures within the idiopathic generalized epilepsies.
Helen J Cross - One of the best experts on this subject based on the ideXlab platform.
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expert opinion on the management of lennox gastaut syndrome treatment algorithms and practical considerations
Frontiers in Neurology, 2017Co-Authors: Helen J Cross, Stephane Auvin, Pasquale Striano, Merce Falip, Alexis ArzimanoglouAbstract:Lennox–Gastaut syndrome (LGS) is a severe epileptic and developmental encephalopathy that is associated with a high rate of morbidity and mortality. It is characterized by multiple Seizure Types, abnormal electroencephalographic features, and intellectual disability. Although intellectual disability and associated behavioral problems are characteristic of LGS, they are not necessarily present at its outset and are therefore not part of its diagnostic criteria. LGS is typically treated with a variety of pharmacological and non-pharmacological therapies, often in combination. Management and treatment decisions can be challenging, due to the multiple Seizure Types and comorbidities associated with the condition. A panel of five epileptologists met to discuss consensus recommendations for LGS management, based on the latest available evidence from literature review and clinical experience. Treatment algorithms were formulated. Current evidence favors the continued use of sodium valproate (VPA) as the first-line treatment for patients with newly diagnosed de novo LGS. If VPA is ineffective alone, evidence supports lamotrigine, or subsequently rufinamide, as adjunctive therapy. If Seizure control remains inadequate, the choice of next adjunctive antiepileptic drug (AED) should be discussed with the patient/parent/caregiver/clinical team, as current evidence is limited. Non-pharmacological therapies, including resective surgery, the ketogenic diet, vagus nerve stimulation, and callosotomy, should be considered for use alongside AED therapy from the outset of treatment. For patients with LGS that has evolved from another type of epilepsy who are already being treated with an AED other than VPA, VPA therapy should be considered if not trialed previously. Thereafter, the approach for a de novo patient should be followed. Where possible, no more than two AEDs should be used concomitantly. Patients with established LGS should undergo review by a neurologist specialized in epilepsy on at least an annual basis, including a thorough reassessment of their diagnosis and treatment plan. Clinicians should always be vigilant to the possibility of treatable etiologies and alert to the possibility that a patient’s diagnosis may change, since the Seizure Types and electroencephalographic features that characterize LGS evolve over time. In all LGS patients, To date, available treatments are unlikely to lead to Seizure remission in the majority of patients
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instruction manual for the ilae 2017 operational classification of Seizure Types
Epilepsia, 2017Co-Authors: Robert S Fisher, Edouard Hirsch, Floor E. Jansen, Norimichi Higurashi, Jacqueline A French, Lieven Lagae, Helen J Cross, Carol Dsouza, Sheryl R Haut, Solomon L MosheAbstract:This companion paper to the introduction of the International League Against Epilepsy (ILAE) 2017 classification of Seizure Types provides guidance on how to employ the classification. Illustration of the classification is enacted by tables, a glossary of relevant terms, mapping of old to new terms, suggested abbreviations, and examples. Basic and extended versions of the classification are available, depending on the desired degree of detail. Key signs and symptoms of Seizures (semiology) are used as a basis for categories of Seizures that are focal or generalized from onset or with unknown onset. Any focal Seizure can further be optionally characterized by whether awareness is retained or impaired. Impaired awareness during any segment of the Seizure renders it a focal impaired awareness Seizure. Focal Seizures are further optionally characterized by motor onset signs and symptoms: atonic, automatisms, clonic, epileptic spasms, or hyperkinetic, myoclonic, or tonic activity. Nonmotor-onset Seizures can manifest as autonomic, behavior arrest, cognitive, emotional, or sensory dysfunction. The earliest prominent manifestation defines the Seizure type, which might then progress to other signs and symptoms. Focal Seizures can become bilateral tonic-clonic. Generalized Seizures engage bilateral networks from onset. Generalized motor Seizure characteristics comprise atonic, clonic, epileptic spasms, myoclonic, myoclonic-atonic, myoclonic-tonic-clonic, tonic, or tonic-clonic. Nonmotor (absence) Seizures are typical or atypical, or Seizures that present prominent myoclonic activity or eyelid myoclonia. Seizures of unknown onset may have features that can still be classified as motor, nonmotor, tonic-clonic, epileptic spasms, or behavior arrest. This "users' manual" for the ILAE 2017 Seizure classification will assist the adoption of the new system.
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Expert Opinion on the Management of Lennox–Gastaut Syndrome: Treatment Algorithms and Practical Considerations
Frontiers Media S.A., 2017Co-Authors: Helen J Cross, Stephane Auvin, Pasquale Striano, Alexis Arzimanoglou, Merce FalipAbstract:Lennox–Gastaut syndrome (LGS) is a severe epileptic and developmental encephalopathy that is associated with a high rate of morbidity and mortality. It is characterized by multiple Seizure Types, abnormal electroencephalographic features, and intellectual disability. Although intellectual disability and associated behavioral problems are characteristic of LGS, they are not necessarily present at its outset and are therefore not part of its diagnostic criteria. LGS is typically treated with a variety of pharmacological and non-pharmacological therapies, often in combination. Management and treatment decisions can be challenging, due to the multiple Seizure Types and comorbidities associated with the condition. A panel of five epileptologists met to discuss consensus recommendations for LGS management, based on the latest available evidence from literature review and clinical experience. Treatment algorithms were formulated. Current evidence favors the continued use of sodium valproate (VPA) as the first-line treatment for patients with newly diagnosed de novo LGS. If VPA is ineffective alone, evidence supports lamotrigine, or subsequently rufinamide, as adjunctive therapy. If Seizure control remains inadequate, the choice of next adjunctive antiepileptic drug (AED) should be discussed with the patient/parent/caregiver/clinical team, as current evidence is limited. Non-pharmacological therapies, including resective surgery, the ketogenic diet, vagus nerve stimulation, and callosotomy, should be considered for use alongside AED therapy from the outset of treatment. For patients with LGS that has evolved from another type of epilepsy who are already being treated with an AED other than VPA, VPA therapy should be considered if not trialed previously. Thereafter, the approach for a de novo patient should be followed. Where possible, no more than two AEDs should be used concomitantly. Patients with established LGS should undergo review by a neurologist specialized in epilepsy on at least an annual basis, including a thorough reassessment of their diagnosis and treatment plan. Clinicians should always be vigilant to the possibility of treatable etiologies and alert to the possibility that a patient’s diagnosis may change, since the Seizure Types and electroencephalographic features that characterize LGS evolve over time. To date, available treatments are unlikely to lead to Seizure remission in the majority of patients and therefore the primary focus of treatment should always be optimization of learning, behavioral management, and overall quality of life
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the genetic landscape of the epileptic encephalopathies of infancy and childhood
Lancet Neurology, 2016Co-Authors: Amy Mctague, Helen J Cross, Katherine B Howell, Manju A Kurian, Ingrid E SchefferAbstract:Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several Seizure Types, frequent epileptiform activity on EEG, and developmental slowing or regression. The encephalopathies include many age-related electroclinical syndromes with specific Seizure Types and EEG features. With the molecular revolution, the number of known monogenic determinants underlying the epileptic encephalopathies has grown rapidly. De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen. Several genes can cause one electroclinical syndrome, and, conversely, one gene might be associated with phenotypic pleiotropy. Diverse genetic causes and molecular pathways have been implicated, involving ion channels, and proteins needed for synaptic, regulatory, and developmental functions. Gene discovery provides the basis for neurobiological insights, often showing convergence of mechanistic pathways. These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders.
Samuel Frank Berkovic - One of the best experts on this subject based on the ideXlab platform.
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severe myoclonic epilepsy of infancy dravet syndrome recognition and diagnosis in adults
Neurology, 2006Co-Authors: Floor E. Jansen, Lynette G Sadleir, Louise A Harkin, Lata Vadlamudi, Jacinta M Mcmahon, John C Mulley, Ingrid E Scheffer, Samuel Frank BerkovicAbstract:Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous Seizure Types with nocturnal generalized tonic-clonic Seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.
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Familial clustering of Seizure Types within the idiopathic generalized epilepsies.
Neurology, 2005Co-Authors: Melodie R. Winawer, Samuel Frank Berkovic, Carla Marini, Bronwyn E. Grinton, Daniel Rabinowitz, Ingrid E SchefferAbstract:Objective: To examine the genetic relationships among epilepsies with different Seizure Types—myoclonic, absence, and generalized tonic-clonic—within the idiopathic generalized epilepsies (IGEs). Background: Careful phenotype definition in the epilepsies may allow division into groups that share susceptibility genes. Examination of Seizure type, a phenotypic characteristic less complex than IGE syndrome, may help to define more homogeneous subgroups. Methods: Using the approach that found evidence of distinct genetic effects on myoclonic vs absence Seizures in families from the Epilepsy Family Study of Columbia University, the authors examined an independent sample of families from Australia and Israel. They also examined the familial clustering of generalized tonic-clonic Seizures (GTCs) within the IGEs in two combined data sets. Families were defined as concordant if all affected members had the same type of Seizure or IGE syndrome, as appropriate for the analysis performed. Results: The proportion of families concordant for myoclonic vs absence Seizures was greater than expected by chance in the Australian families. In addition, GTCs clustered in families with IGEs to a degree greater than expected by chance. Conclusions: These results provide additional evidence for distinct genetic effects on myoclonic vs absence Seizures in an independent set of families and suggest that there is a genetic influence on the occurrence of generalized tonic-clonic Seizures within the idiopathic generalized epilepsies.
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double blind placebo controlled crossover study of lamotrigine in treatment resistant generalised epilepsy
Epilepsia, 1998Co-Authors: Roy G. Beran, F M Dunagan, G Danta, Andrew B Black, Frank J.e. Vajda, Samuel Frank Berkovic, R MackenzieAbstract:Summary: Purpose: Lamotrigine (LTG) is recognised as effective add-on therapy for focal epilepsies, but this is the first double-blind, placebo-controlled, crossover study in treatmentresistant generalised epilepsy. Methods: The study consisted of 2 × 8-week treatment periods followed by a 4-week washout period. Patients received doses of either 75 or 150 mg daily, depending on their concomitant antiepileptic drugs (AEDs). Long-term continuation was offered at the end of the study with open-label LTG. Results: Five centres in Australia recruited 26 patients who were having absence, myoclonic, or generalized tonic-clonic Seizures or a combination of these. Twenty-two patients completed the study. There was a significant reduction in frequency of both tonic-clonic and absence Seizure Types with LTG. A 250% decrease in Seizures was observed for tonic-clonic Seizures in 50% of cases and for absence Seizures in 33% of evaluable cases. Rash was the only adverse effect causing discontinuation. Twenty-three of 26 opted for open-label LTG, with 20 still receiving LTG for a mean of 26 months. In these 20, 80% had 250% Seizure reduction and five (25%) were Seizure free. Conclusions: This study shows that LTG is effective add-on therapy in patients with refractory generalised epilepsies. Statistically significant reduction in Seizures in both absence and tonic-clonic Seizure Types was seen even with low doses of LTG.
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human epileptogenesis and hypothalamic hamartomas new lessons from an experiment of nature
Epilepsia, 1997Co-Authors: Samuel Frank Berkovic, R Kuzniecky, Frederick AndermannAbstract:Hypothalamic hamartomas are rare malformations containing neurons that can be associated with a remark- able epileptic syndrome. This syndrome is characterized by laughing (gelastic) Seizures beginning in early child- hood, often in the neonatal period. Usually there is later development of both focal Seizures including complex partial Seizures (CPS) and a pattern of symptomatic gen- eralized epilepsy with tonic, atonic and other Seizure Types in association with slow spike-and-wave discharge
Stephane Auvin - One of the best experts on this subject based on the ideXlab platform.
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expert opinion on the management of lennox gastaut syndrome treatment algorithms and practical considerations
Frontiers in Neurology, 2017Co-Authors: Helen J Cross, Stephane Auvin, Pasquale Striano, Merce Falip, Alexis ArzimanoglouAbstract:Lennox–Gastaut syndrome (LGS) is a severe epileptic and developmental encephalopathy that is associated with a high rate of morbidity and mortality. It is characterized by multiple Seizure Types, abnormal electroencephalographic features, and intellectual disability. Although intellectual disability and associated behavioral problems are characteristic of LGS, they are not necessarily present at its outset and are therefore not part of its diagnostic criteria. LGS is typically treated with a variety of pharmacological and non-pharmacological therapies, often in combination. Management and treatment decisions can be challenging, due to the multiple Seizure Types and comorbidities associated with the condition. A panel of five epileptologists met to discuss consensus recommendations for LGS management, based on the latest available evidence from literature review and clinical experience. Treatment algorithms were formulated. Current evidence favors the continued use of sodium valproate (VPA) as the first-line treatment for patients with newly diagnosed de novo LGS. If VPA is ineffective alone, evidence supports lamotrigine, or subsequently rufinamide, as adjunctive therapy. If Seizure control remains inadequate, the choice of next adjunctive antiepileptic drug (AED) should be discussed with the patient/parent/caregiver/clinical team, as current evidence is limited. Non-pharmacological therapies, including resective surgery, the ketogenic diet, vagus nerve stimulation, and callosotomy, should be considered for use alongside AED therapy from the outset of treatment. For patients with LGS that has evolved from another type of epilepsy who are already being treated with an AED other than VPA, VPA therapy should be considered if not trialed previously. Thereafter, the approach for a de novo patient should be followed. Where possible, no more than two AEDs should be used concomitantly. Patients with established LGS should undergo review by a neurologist specialized in epilepsy on at least an annual basis, including a thorough reassessment of their diagnosis and treatment plan. Clinicians should always be vigilant to the possibility of treatable etiologies and alert to the possibility that a patient’s diagnosis may change, since the Seizure Types and electroencephalographic features that characterize LGS evolve over time. In all LGS patients, To date, available treatments are unlikely to lead to Seizure remission in the majority of patients
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Expert Opinion on the Management of Lennox–Gastaut Syndrome: Treatment Algorithms and Practical Considerations
Frontiers Media S.A., 2017Co-Authors: Helen J Cross, Stephane Auvin, Pasquale Striano, Alexis Arzimanoglou, Merce FalipAbstract:Lennox–Gastaut syndrome (LGS) is a severe epileptic and developmental encephalopathy that is associated with a high rate of morbidity and mortality. It is characterized by multiple Seizure Types, abnormal electroencephalographic features, and intellectual disability. Although intellectual disability and associated behavioral problems are characteristic of LGS, they are not necessarily present at its outset and are therefore not part of its diagnostic criteria. LGS is typically treated with a variety of pharmacological and non-pharmacological therapies, often in combination. Management and treatment decisions can be challenging, due to the multiple Seizure Types and comorbidities associated with the condition. A panel of five epileptologists met to discuss consensus recommendations for LGS management, based on the latest available evidence from literature review and clinical experience. Treatment algorithms were formulated. Current evidence favors the continued use of sodium valproate (VPA) as the first-line treatment for patients with newly diagnosed de novo LGS. If VPA is ineffective alone, evidence supports lamotrigine, or subsequently rufinamide, as adjunctive therapy. If Seizure control remains inadequate, the choice of next adjunctive antiepileptic drug (AED) should be discussed with the patient/parent/caregiver/clinical team, as current evidence is limited. Non-pharmacological therapies, including resective surgery, the ketogenic diet, vagus nerve stimulation, and callosotomy, should be considered for use alongside AED therapy from the outset of treatment. For patients with LGS that has evolved from another type of epilepsy who are already being treated with an AED other than VPA, VPA therapy should be considered if not trialed previously. Thereafter, the approach for a de novo patient should be followed. Where possible, no more than two AEDs should be used concomitantly. Patients with established LGS should undergo review by a neurologist specialized in epilepsy on at least an annual basis, including a thorough reassessment of their diagnosis and treatment plan. Clinicians should always be vigilant to the possibility of treatable etiologies and alert to the possibility that a patient’s diagnosis may change, since the Seizure Types and electroencephalographic features that characterize LGS evolve over time. To date, available treatments are unlikely to lead to Seizure remission in the majority of patients and therefore the primary focus of treatment should always be optimization of learning, behavioral management, and overall quality of life
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malignant migrating partial Seizures of infancy controlled by stiripentol and clonazepam
Brain & Development, 2013Co-Authors: Dana Merdariu, Catherine Delanoe, Nora Mahfoufi, Vanina Bellavoine, Stephane AuvinAbstract:The syndrome of malignant migrating partial Seizures of infancy (MMPSI) is characterized by early onset of multiple Seizure Types and overall poor prognosis. Seizures are markedly drug resistant and few reports have suggested the efficacy of some antiepileptic drugs. We report one case of MMPSI in which prolonged Seizure control is obtained with an association of clonazepam, levetiracetam and stiripentol, confirming thus the possibility of complete sustained Seizure control in this epileptic syndrome. Of more than 60 cases reported to date, ours is the forth in which sustained complete control of Seizures was obtained.
Floor E. Jansen - One of the best experts on this subject based on the ideXlab platform.
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treatment in epileptic encephalopathy with eses and landau kleffner syndrome
Zeitschrift für Epileptologie, 2019Co-Authors: Floor E. Jansen, Bart Van Den MunckhofAbstract:Epileptic encephalopathy with electrical status epilepticus in sleep (ESES) is an age-related syndrome with acquired neurodevelopmental deficits in relation to epilepsy with many Seizure Types. Early and accurate treatment is aimed at prevention or reduction of associated cognitive deficits and, to a lesser extent, control Seizures. Evidence for an optimal treatment strategy is still lacking. Here, we review the current literature on treatment efficacy in patients with epileptic encephalopathy with ESES.
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instruction manual for the ilae 2017 operational classification of Seizure Types
Epilepsia, 2017Co-Authors: Robert S Fisher, Edouard Hirsch, Floor E. Jansen, Norimichi Higurashi, Jacqueline A French, Lieven Lagae, Helen J Cross, Carol Dsouza, Sheryl R Haut, Solomon L MosheAbstract:This companion paper to the introduction of the International League Against Epilepsy (ILAE) 2017 classification of Seizure Types provides guidance on how to employ the classification. Illustration of the classification is enacted by tables, a glossary of relevant terms, mapping of old to new terms, suggested abbreviations, and examples. Basic and extended versions of the classification are available, depending on the desired degree of detail. Key signs and symptoms of Seizures (semiology) are used as a basis for categories of Seizures that are focal or generalized from onset or with unknown onset. Any focal Seizure can further be optionally characterized by whether awareness is retained or impaired. Impaired awareness during any segment of the Seizure renders it a focal impaired awareness Seizure. Focal Seizures are further optionally characterized by motor onset signs and symptoms: atonic, automatisms, clonic, epileptic spasms, or hyperkinetic, myoclonic, or tonic activity. Nonmotor-onset Seizures can manifest as autonomic, behavior arrest, cognitive, emotional, or sensory dysfunction. The earliest prominent manifestation defines the Seizure type, which might then progress to other signs and symptoms. Focal Seizures can become bilateral tonic-clonic. Generalized Seizures engage bilateral networks from onset. Generalized motor Seizure characteristics comprise atonic, clonic, epileptic spasms, myoclonic, myoclonic-atonic, myoclonic-tonic-clonic, tonic, or tonic-clonic. Nonmotor (absence) Seizures are typical or atypical, or Seizures that present prominent myoclonic activity or eyelid myoclonia. Seizures of unknown onset may have features that can still be classified as motor, nonmotor, tonic-clonic, epileptic spasms, or behavior arrest. This "users' manual" for the ILAE 2017 Seizure classification will assist the adoption of the new system.
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Operational classification of Seizure Types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology
Epilepsia, 2017Co-Authors: Robert S Fisher, Edouard Hirsch, Floor E. Jansen, Jukka Peltola, Norimichi Higurashi, Solomon L Moshe, Jacqueline A French, J Helen Cross, Lieven Lagae, Eliane Roulet-perezAbstract:SUMMARY The International League Against Epilepsy (ILAE) presents a revised operational clas-sification of Seizure Types. The purpose of such a revision is to recognize that some sei-zure Types can have either a focal or generalized onset, to allow classification when the onset is unobserved, to include some missing Seizure Types, and to adopt more trans-parent names. Because current knowledge is insufficient to form a scientifically based classification, the 2017 Classification is operational (practical) and based on the 1981 Classification, extended in 2010. Changes include the following: (1) " partial " becomes " focal " ; (2) awareness is used as a classifier of focal Seizures; (3) the terms dyscognitive, simple partial, complex partial, psychic, and secondarily generalized are eliminated; (4) new focal Seizure Types include automatisms, behavior arrest, hyperkinetic, auto-nomic, cognitive, and emotional; (5) atonic, clonic, epileptic spasms, myoclonic, and tonic Seizures can be of either focal or generalized onset; (6) focal to bilateral tonic– clonic Seizure replaces secondarily generalized Seizure; (7) new generalized Seizure Types are absence with eyelid myoclonia, myoclonic absence, myoclonic–atonic, myoclonic–tonic–clonic; and (8) Seizures of unknown onset may have features that can still be classified. The new classification does not represent a fundamental change, but allows greater flexibility and transparency in naming Seizure Types.
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severe myoclonic epilepsy of infancy dravet syndrome recognition and diagnosis in adults
Neurology, 2006Co-Authors: Floor E. Jansen, Lynette G Sadleir, Louise A Harkin, Lata Vadlamudi, Jacinta M Mcmahon, John C Mulley, Ingrid E Scheffer, Samuel Frank BerkovicAbstract:Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous Seizure Types with nocturnal generalized tonic-clonic Seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.