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Electroclinical syndromes of idiopathic generalized epilepsies in adults
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Abstracts / Clinical Neurophysiology 126 (2015) e173–e184
noted that although EMG examination provides accurate facts about the presence and severity of functional nerve damage, this method cannot provide any insight into the anatomy of the nerves, or the state of the surrounding tissue. Thus, there is a need to have additional diagnostic procedure besides EMG that would enable the full insight into a peripheral nerve. For the last two decades, there is a clear trend for more frequent use of ultrasound (US) in the diagnosis and monitoring of various diseases of the peripheral nerves. Indications for the US in peripheral nerve disorders are numerous, but this method is often applied in suspected compressive mononeuropathy, traumatic nerve damage (especially of the brachial plexus), in rare primary nerve tumors and in neurocutaneous diseases, as well as some immune-mediated neuropathies. The lecture will present the basic ultrasound principles in the diagnosis of these disorders, with illustrative examples from clinical practice. doi:10.1016/j.clinph.2015.04.014
Electroclinical syndromes of idiopathic generalized epilepsies in adults—M. Milovanovic´ (Institute of mental health, Belgrade, Serbia) Idiopathic generalized epilepsies (IGE) accounting for 20–40% of all epilepsies. International League against Epilepsy (ILAE) Classification recognizes three main IGE subsyndromes that are manifested in adults: juvenile absence epilepsy (JAE); juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures only (EGTCSO). JAE is mainly manifested with typical absence seizures (TAS), 80% of patients suffer from GTCS, and 20% have myoclonic jerks (MJ). JME is the most common IGE subsyndrome, characterized by MJ on awakening, GTCS in nearly all patients, and TAS in a third of them. EGTCSO with GTCS occurring predominantly on awakening is probably life-long disease with a high incidence of relapse on withdrawal of treatment. Some types of IGE have not yet been recognized by the ILAE: (1) Jeavons syndrome – a purely reflex IGE predominantly manifested with eyelid myoclonia and electroencephalogram (EEG) abnormalities on eye closure, (2) perioral myclonia with absences, (3) IGE with phantom absences – a type of mild absences before the first GTCS, that usually occurs in adulthood. Both perioral myoclonia with absences and phantom absences are clinically significant because they are probably life-long and are associated with a very high incidence of absence status epilepticus that may escape diagnosis and appropriate treatment. doi:10.1016/j.clinph.2015.04.015
Molecular genetics of idiopathic generalized epilepsies—M. Kecmanovic´ (Faculty of Biology, University of Belgrade, Belgrade, Serbia) Most of idiopathic generalized epilepsies (IGEs) follow a complex genetic inheritance, with only a few rare, large families presenting with an autosomal dominant inheritance. During the past 20 years many genes associated with IGE were discovered, most of which encode ion channels or neurotransmitter receptors, but the question about the total number of existing genes is still unanswered. Novel technologies have resulted in the expansion of knowledge of normal variations in the human genome and enabled progress in the area of the molecular basis of IGE. New generation sequencing has become affordable and exom sequencing well established standard technology. The main result achieved was identification of copy number variations associated with IGE. But these rare variants could not be identified with genome-wide significance suggesting that genetic
architecture of IGE is much more heterogeneous. The other achievement was identification of common genetic variants or Single Nucleotide Polymorphisms associated with IGE through genomewide association studies, but not only in genes encoding the ion channels, moving the field of IGE genetics beyond the channelopathies. True measure of the success of these researches will be the possibility to translate genetic discoveries into a deeper mechanistic understanding of epilepsy in order to develop effective therapy. doi:10.1016/j.clinph.2015.04.016
Treatment and prognosis of idiopathic generalized epilepsy in ˇ . Martinovic´ (Belgrade, Serbia) adults—Z Treatment of idiopathic generalized epilepsy (IGE) always includes regular use of antiepileptic drugs (AED) and patient counseling. Although the International League against Epilepsy and the National Institute of Clinical Excellence recently provided very useful guidelines, the treatment of epilepsy should always respect the individual characteristic of each patient. Counseling of patients to establish normal life style and avoidance of seizure precipitants is always necessary. Monotherapy with valproate as first line treatment is usually based on its superior efficacy over all other AED in all seizures and syndromes of IGE. However, valproate may be poorly tolerated by some patients, and is considered unsafe for the fetuses of pregnant women. Levetiracetam is alternative first line treatment in women of reproductive age planning pregnancy. Drugs used for therapy of focal or partial seizures (carbamazepine, oxcarbazepine, pregabalin, etc.) often exacerbate absences and/or myoclonus and are contraindicated in juvenile myoclonic epilepsy (JME) and other IGE syndromes with these seizure types. In general, the prognosis of IGE in adults is better than that of focal and symptomatic epilepsies, but lifelong treatment may be necessary, particularly in JME patients. Social outcome in IGE, especially in JME, may be unfavorable, even after a good seizure control. doi:10.1016/j.clinph.2015.04.017
Interictal EEG pattern in West syndrome—R. Kravljanac, M. Ðuric´, B. Tadic´ (Institute for Mother and Child Healthcare of Serbia, Medical Faculty University of Belgrade, Belgrade, Serbia) Purpose: Evaluation of interictal EEG patterns and correlation with etiology and clinical course in children with West syndrome (WS). Methods: The children with WS treated in period 1996–2010 were included. Interictal EEG was recorded initially, 7th and 14th day and after 6th weeks of therapy onset. EEG was classified as hypsarrhythmia (H) and modified hypsarrhythmia (MH). Etiology was divided in two groups: idiopathic/cryptogenic and symptomatic. Clinical features included number of infantile spasms (IS) and neurological status initially and during the follow up. Results: Hypsarrhythmia initially was recorded in 45 of total number of 180 patients (25.1%), while MH in 134 (74.9%). Abnormal previous neurological development was presented in 77.7% with H, and 62.7% with MH. Simptomatic etiology was in 77.7% children with H and in 29,1% with MH. Average initial IS number was 152 in patients with H, and 122 with MH. Persistence of IS was in one with, H and 15 with MH. Good neurological outcome was in about 20% in both groups. Conclusion: Interictal EEG pattern is in correlation with WS etiology and clinical course, while without impact to the final
Abstracts / Clinical Neurophysiology 126 (2015) e173–e184
noted that although EMG examination provides accurate facts about the presence and severity of functional nerve damage, this method cannot provide any insight into the anatomy of the nerves, or the state of the surrounding tissue. Thus, there is a need to have additional diagnostic procedure besides EMG that would enable the full insight into a peripheral nerve. For the last two decades, there is a clear trend for more frequent use of ultrasound (US) in the diagnosis and monitoring of various diseases of the peripheral nerves. Indications for the US in peripheral nerve disorders are numerous, but this method is often applied in suspected compressive mononeuropathy, traumatic nerve damage (especially of the brachial plexus), in rare primary nerve tumors and in neurocutaneous diseases, as well as some immune-mediated neuropathies. The lecture will present the basic ultrasound principles in the diagnosis of these disorders, with illustrative examples from clinical practice. doi:10.1016/j.clinph.2015.04.014
Electroclinical syndromes of idiopathic generalized epilepsies in adults—M. Milovanovic´ (Institute of mental health, Belgrade, Serbia) Idiopathic generalized epilepsies (IGE) accounting for 20–40% of all epilepsies. International League against Epilepsy (ILAE) Classification recognizes three main IGE subsyndromes that are manifested in adults: juvenile absence epilepsy (JAE); juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures only (EGTCSO). JAE is mainly manifested with typical absence seizures (TAS), 80% of patients suffer from GTCS, and 20% have myoclonic jerks (MJ). JME is the most common IGE subsyndrome, characterized by MJ on awakening, GTCS in nearly all patients, and TAS in a third of them. EGTCSO with GTCS occurring predominantly on awakening is probably life-long disease with a high incidence of relapse on withdrawal of treatment. Some types of IGE have not yet been recognized by the ILAE: (1) Jeavons syndrome – a purely reflex IGE predominantly manifested with eyelid myoclonia and electroencephalogram (EEG) abnormalities on eye closure, (2) perioral myclonia with absences, (3) IGE with phantom absences – a type of mild absences before the first GTCS, that usually occurs in adulthood. Both perioral myoclonia with absences and phantom absences are clinically significant because they are probably life-long and are associated with a very high incidence of absence status epilepticus that may escape diagnosis and appropriate treatment. doi:10.1016/j.clinph.2015.04.015
Molecular genetics of idiopathic generalized epilepsies—M. Kecmanovic´ (Faculty of Biology, University of Belgrade, Belgrade, Serbia) Most of idiopathic generalized epilepsies (IGEs) follow a complex genetic inheritance, with only a few rare, large families presenting with an autosomal dominant inheritance. During the past 20 years many genes associated with IGE were discovered, most of which encode ion channels or neurotransmitter receptors, but the question about the total number of existing genes is still unanswered. Novel technologies have resulted in the expansion of knowledge of normal variations in the human genome and enabled progress in the area of the molecular basis of IGE. New generation sequencing has become affordable and exom sequencing well established standard technology. The main result achieved was identification of copy number variations associated with IGE. But these rare variants could not be identified with genome-wide significance suggesting that genetic
architecture of IGE is much more heterogeneous. The other achievement was identification of common genetic variants or Single Nucleotide Polymorphisms associated with IGE through genomewide association studies, but not only in genes encoding the ion channels, moving the field of IGE genetics beyond the channelopathies. True measure of the success of these researches will be the possibility to translate genetic discoveries into a deeper mechanistic understanding of epilepsy in order to develop effective therapy. doi:10.1016/j.clinph.2015.04.016
Treatment and prognosis of idiopathic generalized epilepsy in ˇ . Martinovic´ (Belgrade, Serbia) adults—Z Treatment of idiopathic generalized epilepsy (IGE) always includes regular use of antiepileptic drugs (AED) and patient counseling. Although the International League against Epilepsy and the National Institute of Clinical Excellence recently provided very useful guidelines, the treatment of epilepsy should always respect the individual characteristic of each patient. Counseling of patients to establish normal life style and avoidance of seizure precipitants is always necessary. Monotherapy with valproate as first line treatment is usually based on its superior efficacy over all other AED in all seizures and syndromes of IGE. However, valproate may be poorly tolerated by some patients, and is considered unsafe for the fetuses of pregnant women. Levetiracetam is alternative first line treatment in women of reproductive age planning pregnancy. Drugs used for therapy of focal or partial seizures (carbamazepine, oxcarbazepine, pregabalin, etc.) often exacerbate absences and/or myoclonus and are contraindicated in juvenile myoclonic epilepsy (JME) and other IGE syndromes with these seizure types. In general, the prognosis of IGE in adults is better than that of focal and symptomatic epilepsies, but lifelong treatment may be necessary, particularly in JME patients. Social outcome in IGE, especially in JME, may be unfavorable, even after a good seizure control. doi:10.1016/j.clinph.2015.04.017
Interictal EEG pattern in West syndrome—R. Kravljanac, M. Ðuric´, B. Tadic´ (Institute for Mother and Child Healthcare of Serbia, Medical Faculty University of Belgrade, Belgrade, Serbia) Purpose: Evaluation of interictal EEG patterns and correlation with etiology and clinical course in children with West syndrome (WS). Methods: The children with WS treated in period 1996–2010 were included. Interictal EEG was recorded initially, 7th and 14th day and after 6th weeks of therapy onset. EEG was classified as hypsarrhythmia (H) and modified hypsarrhythmia (MH). Etiology was divided in two groups: idiopathic/cryptogenic and symptomatic. Clinical features included number of infantile spasms (IS) and neurological status initially and during the follow up. Results: Hypsarrhythmia initially was recorded in 45 of total number of 180 patients (25.1%), while MH in 134 (74.9%). Abnormal previous neurological development was presented in 77.7% with H, and 62.7% with MH. Simptomatic etiology was in 77.7% children with H and in 29,1% with MH. Average initial IS number was 152 in patients with H, and 122 with MH. Persistence of IS was in one with, H and 15 with MH. Good neurological outcome was in about 20% in both groups. Conclusion: Interictal EEG pattern is in correlation with WS etiology and clinical course, while without impact to the final