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Unusual features in eyelid myoclonia with absences: A patient with mild mental retardation and background slowing on electroencephalography
Epilepsy & Behavior 8 (2006) 442–445 www.elsevier.com/locate/yebeh
Case Report
Unusual features in eyelid myoclonia with absences: A patient with mild mental retardation and background slowing on electroencephalography Eser Basak Sevgi Demirci *, Serap Saygi Department of Neurology, School of Medicine, Hacettepe University Hospitals, Ankara, Turkey Received 4 June 2005; revised 30 November 2005; accepted 9 December 2005
Abstract ‘‘Eyelid myoclonia with and without absences’’ has been incorporated into the new ILAE diagnostic scheme as a type of epileptic seizure with etiologic, therapeutic, and prognostic implications. Eyelid myoclonia with absences (EMA) is characterized by eyelid myoclonia and absences provoked mainly by eye closure and photosensivity. EMA can be a part of idiopathic, symptomatic, or probably symptomatic epileptic syndromes. EMA is the defining seizure symptom that differentiates the idiopathic reflex epileptic syndrome Jeavons syndrome from eyelid myoclonia with absences. Jeavons syndrome is characterized by unique clinical and electroencephalographic features and often genetic clustering. EMA is easily diagnosed by clinical manifestations and properly conducted electroencephalography. However, it is often misdiagnosed as tics or other types of epileptic seizures and syndromes, particularly in patients with mental retardation, behavioral disturbances, and atypical electroencephalographic findings. We describe a 19-year-old woman with EMA who remained undiagnosed for many years. She was mildly mentally retarded and her electroencephalogram showed slow background activity, which are unusual findings in Jeavons syndrome. Ó 2005 Elsevier Inc. All rights reserved. Keywords: Eyelid myoclonia with absences; Electroencephalographic findings; Mental retardation; Behavioral disturbances
1. Introduction ‘‘Eyelid myoclonia with and without absences’’ has been incorporated into the new ILAE diagnostic scheme as a type of epileptic seizure with etiologic, therapeutic, and prognostic implications [1,2]. Eyelid myoclonia with absences (EMA) is characterized by eyelid myoclonia and absences provoked mainly by eye closure and photosensitivity. Eye closure sensitivity is completely abolished when eyes are closed in total darkness. EMA can be seen in patients with idiopathic or probably symptomatic epilepsies. Myoclonic jerks of the limbs occur in 50% of patients [3]. Age at onset is 5–6 years, and EMA is more common in females. There exists a family history in 48.5% of cases [4]. *
Corresponding author. Fax: +00 90 312 3093451. E-mail address: [email protected] (E.B. Sevgi Demirci).
1525-5050/$ - see front matter Ó 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.yebeh.2005.12.007
Seizures usually last 3–5 seconds. Ictal EEG shows generalized polyspike and polyspike slow waves at a frequency of 3 to 6 Hz. Tic disorders and childhood absences should be considered in the differential diagnosis of EMA. Appropriate early diagnosis may be a challenge, hence EMA can be a part of heterogenous syndromes with different clinical presentations; semiology of associated seizures varies from complex partial seizures with secondary generalization to absence status. A case with longlasting convulsive seizures induced by television has also been reported [5]. Together with behavioral disturbances mimicking personality disorders, EMA is a difficult, yet almost mandatory condition to diagnose as early as possible because of the refractory behavior of the disease to mono and, sometimes, multi-antiepileptic drug therapy. We describe a 19-year-old woman who remained undiagnosed for many years; she was referred to our clinic for
Case Report / Epilepsy & Behavior 8 (2006) 442–445
intractable absence seizures, mild mental retardation, and slow background activity on the electroencephalogram (EEG). 2. Case study The patient was referred to our hospital for video/EEG monitoring at the age of 18 because of her refractory seizures. Although she had a history of a febrile convulsion at 6 months of age, her first symptoms began at the age of 5, with repeated episodes of looking up and brief lapses in consciousness lasting a few seconds. After a diagnosis of childhood absence, she was started on ethosuximide at the age of 5. Medication had no significant effect, and the control EEG taken 3 years later still showed generalized paroxysmal epileptiform activity with spikes, spike–wave complexes exaggerated by intermittent photic stimulation at 10- to 20-Hz frequency, and rhythmic slow waves at delta frequency. Diphenylhydantoin (phenytoin, DPH) and carbamazepine (CBZ) were tried in combination, again with no significant response. Valproic acid (VPA) was started at the age of 9 and used for 6 years, with a decreased frequency of seizures. Three years before we saw her, she was switched from VPA to combined CBZ/ phenobarbital therapy, and then she suffered from myoclonic jerks in the upper extremities. Two years later, she was admitted to a psychiatry clinic with hallucinations and delusions of reference and persecution, which were treated with olanzapine. At the time of admission, she had been taking CBZ and phenobarbital for 3 years and olanzapine for psychiatric problems, although this combination increased her seizure frequency. Her routine EEG showed background slowing and rare generalized sharp wave activities. Eye closure and photic stimulation had no effect in a dark room.
443
During 24-hour video/EEG monitoring, background activity consisted of 6- to 7-Hz theta waves. After each eye closure, generalized 3- to 4-Hz spike–slow wave complexes and multiple spikes were observed for 3 to 4 seconds (Fig. 1). In addition to these epileptic discharges, rare spike activity in the bilateral parieto-occipital area and vertex was also observed. Video recordings revealed periods of absence with eyelid flutter and perioral and upper limb myoclonus synchronous with these discharges. Active epileptiform abnormalities were observed during the awake period, and no nocturnal seizures were observed. On awakening, these discharges were exaggerated with concomitant retropulsive movements of the eyeballs. Magnetic resonance imaging (MRI), single-photonemission computerized tomography with 99Tc-HMPAO (SPECT), and visual evoked potential (VEP) screening were normal, as was her neurological examination, except for mild mental retardation (IQ = 70). When the family history was taken again with detailed questions, it was revealed that one of her cousins also has been diagnosed with epilepsy with similar seizures. We discontinued olanzapine, phenobarbital, and CBZ, and started her on VPA and then VPA, ethosuximide, and lamotrigine combined therapy after the diagnosis of EMA. On the control EEG, the background activity comprised 6- to 7-Hz theta waves with paroxysmal delta waves in the occipital regions. No epileptiform activity was recorded during eye closure in a dark or bright room; photic stimulation also had no effect (Fig. 2). Myoclonus of the upper limbs and perioral area disappeared, and the frequency of absence seizures decreased. After 1 year of follow-up, with phone calls, the patient informed us that the absence seizures occurred rarely. She had attempted suicide 4 months previously and her psychiatric problems still persist.
Fig. 1. Background activity consists of 6- to 7-Hz theta waves. Generalized 3- to 4-Hz spike–slow wave complexes and multiple spike waves appear after each eye closing during video/EEG recording.
444
Case Report / Epilepsy & Behavior 8 (2006) 442–445
Fig. 2. Control EEG recorded in a bright room after treatment. Note the background slowing and absence of epileptiform activity.
3. Discussion This case demonstrates the characteristic clinical and EEG features of EMA. Rarely reported situations like mild mental retardation, focal paroxysmal or generalized slow wave activities, and behavioral disturbances were also observed. Family history is a common feature of EMA; three pairs of twins [6] and two sisters [3] had been described previously. Our patient’s cousin also had a similar history and she was probably misdiagnosed as having an absence epilepsy. Blood samples for genetic screening were obtained from the family and are being stored under suitable conditions in our hospital’s DNA bank for possible further investigation in the future. Mental retardation is seldom a finding in EMA; three patients were reported by Scuderi et al. [7] and two monozygotic twins with behavioral disturbances by De Marco [8]. Because the condition was not properly diagnosed at the time, psychiatric consultation yielded a conclusion relating the symptoms to phenobarbital medication, and our patient was thus treated with olanzapine. A combination of VPA and ethosuximide is the most effective regimen. Clonazepam may be a valid option. CBZ, vigabatrin, tiagabine, and DPH are contraindicated. During follow-up, despite withdrawal of phenobarbital, behavioral disturbances persisted. This psychiatric situation is probably a feature of this syndrome. Eye closure and photosensivity are the main precipitating factors in EMA. Eye closure sensitivity persists into adulthood, but photosensitivity declines. Some patients may self-induce seizures by repetitive or slow eye closure
but this is rare. In our patient, the only EEG that revealed photosensitivity was recorded at the age of 8, and photosensitivity could not be demonstrated later. Although electroencephalography is the most helpful procedure in the diagnosis of EMA, it must be performed under proper conditions and with the correct procedure. Generalized polyspike and polyspike slow waves at a frequency of 3–6 Hz could be observed after each eye closure only in a bright room and with intermittent photic stimulation. This is why we could not show epileptiform abnormalities in the outpatient EEG laboratory because of the darkness. Otherwise, the patient could easily be overlooked and diagnosed with childhood absence epilepsy or tic disorder. Striano et al. reported that 7.46% of patients with idiopathic generalized epilepsy could be diagnosed as having EMA [4]. Slow background activity is an unusual feature of the EEG in EMA [7], as both paroxysmal focal and slow wave activities were present in our patient [3,4,7]. Another interesting and rarely reported electroencephalographic finding is paroxysmal focal activity in the occipital areas of the brain, observed during treatment with antiepileptic drugs [4]. This was suggested to be the effect of age or antiepileptic drug therapy, in agreement with the case described here. It is possible that the background slowing on the EEG and the mild mental retardation of the patient may be due to treatment with inappropriate antiepileptic drugs. But slow background activity and occipital slow wave paroxysms were still present on the EEG even after her antiepileptic drug medication was changed. Results of anatomical and functional imaging of the brain with MRI and interictal SPECT were normal in our case, and there is no known
Case Report / Epilepsy & Behavior 8 (2006) 442–445
cause for these seizures and the other mental and behavioral problems. There are, in fact, few factors differentiating eyelid myoclonia with absences as a type of seizure versus a type of epileptic syndrome (Jeavons syndrome). Jeavons syndrome (eyelid myoclonia with absences) is an idiopathic epileptic syndrome manifested by frequent (pyknoleptic) seizures, consisting of eyelid myoclonia often associated with absences [9]. The seizures are brief (3–6 seconds) and occur mainly after eye closure. They consist of eyelid myoclonia, which persists throughout the attack with or without absences. Absences without eyelid myoclonia do not occur. There is probably an associated tonic component of the involved muscles. If the seizure is prolonged, impairment of consciousness occurs. All patients are highly photosensitive in childhood, but this declines with age. Infrequent generalized tonic–clonic seizures, either induced by light or spontaneous, are probably inevitable in the long term and are likely to occur after sleep deprivation, fatigue, and alcohol indulgence. Myoclonic jerks of the limbs may occur, but are infrequent and random. The eyelid myoclonia of Jeavons syndrome is resistant to treatment and may be lifelong. However, clinical absences may become less frequent with age. Ictal manifestations on the EEG consist mainly of generalized polyspike waves at 3– 6 Hz, which are more likely to occur after eye closure in an illuminated room. Total darkness abolishes the abnormalities related to eye closure. Jeavons syndrome is characterized by unique clinical and EEG features and often genetic clustering [9]. Our patient could be diagnosed as having Jeavons syndrome, but the background slowing on the EEG and the mental and behavioral problems with normal MRI findings are seen in cryptogenic cases, not in idiopathic cases.
445
In conclusion, EMA can be a part of cryptogenic, symptomatic, or idiopathic epileptic syndromes. It is easily diagnosed by properly conducted EEG recordings, but is also misdiagnosed because of the diversity of symptoms like mental retardation, behavioral disturbances, and atypical EEG findings. A suitable EEG recording technique combined with video/EEG monitoring is needed for early and accurate diagnosis of EMA. With respect to the family histories reported in the literature, it is believed that genetic studies will be helpful in the near future. References [1] Engel Jr J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001;42:796–803. [2] Panayiotopoulos CP. Eyelid myoclonia with or without absences. In: Gilman S, editor. Medlink Neurology. San Diego: Arbor; 2005. [3] Giannakodimos S, Panayiotopoulos CP. Eyelid myoclonia with absences in adults: a clinical and video EEG study. Epilepsia 1996;37:36–44. [4] Striano S, Striano P, Nocerino C, et al. Eyelid myoclonia with absence: an overlooked epileptic syndrome. Clin Neurophysiol 2002:287–96. [5] Incorpora G, Sofia V, Pavone P, et al. Clinical heterogenity in eyelid myoclonia, with absences, and epilepsy. Eur J Pediatr 2002;161:175–7. [6] Bianchi A. The Italian League Against Epilepsy: studies of concordance of syndromes in families with absence epilepsies. In: Duncan JS, Panayiotopoulus CP, editors. Typical absence seizures and related epileptic syndromes. London: Churchill Livingstone; 1995. p. 328–37. [7] Scuderi C, Musumeci SA, Ferri R, et al. Eyelid myoclonia with absence in three subjects with mental retardation. Neurol Sci 2000;21:247–50. [8] De Marco P. Eyelid myoclonia with absences in monovular twins. Clin Electroencephalogr 1989;20:193–5. [9] Panayiotopoulos CP. Reflex seizures and reflex epilepsies. In: Panayiotopoulos CP, editor. The epilepsies: seizures, syndromes and management. Oxford: Bladon Medical; 2005. p. 449–96.
Case Report
Unusual features in eyelid myoclonia with absences: A patient with mild mental retardation and background slowing on electroencephalography Eser Basak Sevgi Demirci *, Serap Saygi Department of Neurology, School of Medicine, Hacettepe University Hospitals, Ankara, Turkey Received 4 June 2005; revised 30 November 2005; accepted 9 December 2005
Abstract ‘‘Eyelid myoclonia with and without absences’’ has been incorporated into the new ILAE diagnostic scheme as a type of epileptic seizure with etiologic, therapeutic, and prognostic implications. Eyelid myoclonia with absences (EMA) is characterized by eyelid myoclonia and absences provoked mainly by eye closure and photosensivity. EMA can be a part of idiopathic, symptomatic, or probably symptomatic epileptic syndromes. EMA is the defining seizure symptom that differentiates the idiopathic reflex epileptic syndrome Jeavons syndrome from eyelid myoclonia with absences. Jeavons syndrome is characterized by unique clinical and electroencephalographic features and often genetic clustering. EMA is easily diagnosed by clinical manifestations and properly conducted electroencephalography. However, it is often misdiagnosed as tics or other types of epileptic seizures and syndromes, particularly in patients with mental retardation, behavioral disturbances, and atypical electroencephalographic findings. We describe a 19-year-old woman with EMA who remained undiagnosed for many years. She was mildly mentally retarded and her electroencephalogram showed slow background activity, which are unusual findings in Jeavons syndrome. Ó 2005 Elsevier Inc. All rights reserved. Keywords: Eyelid myoclonia with absences; Electroencephalographic findings; Mental retardation; Behavioral disturbances
1. Introduction ‘‘Eyelid myoclonia with and without absences’’ has been incorporated into the new ILAE diagnostic scheme as a type of epileptic seizure with etiologic, therapeutic, and prognostic implications [1,2]. Eyelid myoclonia with absences (EMA) is characterized by eyelid myoclonia and absences provoked mainly by eye closure and photosensitivity. Eye closure sensitivity is completely abolished when eyes are closed in total darkness. EMA can be seen in patients with idiopathic or probably symptomatic epilepsies. Myoclonic jerks of the limbs occur in 50% of patients [3]. Age at onset is 5–6 years, and EMA is more common in females. There exists a family history in 48.5% of cases [4]. *
Corresponding author. Fax: +00 90 312 3093451. E-mail address: [email protected] (E.B. Sevgi Demirci).
1525-5050/$ - see front matter Ó 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.yebeh.2005.12.007
Seizures usually last 3–5 seconds. Ictal EEG shows generalized polyspike and polyspike slow waves at a frequency of 3 to 6 Hz. Tic disorders and childhood absences should be considered in the differential diagnosis of EMA. Appropriate early diagnosis may be a challenge, hence EMA can be a part of heterogenous syndromes with different clinical presentations; semiology of associated seizures varies from complex partial seizures with secondary generalization to absence status. A case with longlasting convulsive seizures induced by television has also been reported [5]. Together with behavioral disturbances mimicking personality disorders, EMA is a difficult, yet almost mandatory condition to diagnose as early as possible because of the refractory behavior of the disease to mono and, sometimes, multi-antiepileptic drug therapy. We describe a 19-year-old woman who remained undiagnosed for many years; she was referred to our clinic for
Case Report / Epilepsy & Behavior 8 (2006) 442–445
intractable absence seizures, mild mental retardation, and slow background activity on the electroencephalogram (EEG). 2. Case study The patient was referred to our hospital for video/EEG monitoring at the age of 18 because of her refractory seizures. Although she had a history of a febrile convulsion at 6 months of age, her first symptoms began at the age of 5, with repeated episodes of looking up and brief lapses in consciousness lasting a few seconds. After a diagnosis of childhood absence, she was started on ethosuximide at the age of 5. Medication had no significant effect, and the control EEG taken 3 years later still showed generalized paroxysmal epileptiform activity with spikes, spike–wave complexes exaggerated by intermittent photic stimulation at 10- to 20-Hz frequency, and rhythmic slow waves at delta frequency. Diphenylhydantoin (phenytoin, DPH) and carbamazepine (CBZ) were tried in combination, again with no significant response. Valproic acid (VPA) was started at the age of 9 and used for 6 years, with a decreased frequency of seizures. Three years before we saw her, she was switched from VPA to combined CBZ/ phenobarbital therapy, and then she suffered from myoclonic jerks in the upper extremities. Two years later, she was admitted to a psychiatry clinic with hallucinations and delusions of reference and persecution, which were treated with olanzapine. At the time of admission, she had been taking CBZ and phenobarbital for 3 years and olanzapine for psychiatric problems, although this combination increased her seizure frequency. Her routine EEG showed background slowing and rare generalized sharp wave activities. Eye closure and photic stimulation had no effect in a dark room.
443
During 24-hour video/EEG monitoring, background activity consisted of 6- to 7-Hz theta waves. After each eye closure, generalized 3- to 4-Hz spike–slow wave complexes and multiple spikes were observed for 3 to 4 seconds (Fig. 1). In addition to these epileptic discharges, rare spike activity in the bilateral parieto-occipital area and vertex was also observed. Video recordings revealed periods of absence with eyelid flutter and perioral and upper limb myoclonus synchronous with these discharges. Active epileptiform abnormalities were observed during the awake period, and no nocturnal seizures were observed. On awakening, these discharges were exaggerated with concomitant retropulsive movements of the eyeballs. Magnetic resonance imaging (MRI), single-photonemission computerized tomography with 99Tc-HMPAO (SPECT), and visual evoked potential (VEP) screening were normal, as was her neurological examination, except for mild mental retardation (IQ = 70). When the family history was taken again with detailed questions, it was revealed that one of her cousins also has been diagnosed with epilepsy with similar seizures. We discontinued olanzapine, phenobarbital, and CBZ, and started her on VPA and then VPA, ethosuximide, and lamotrigine combined therapy after the diagnosis of EMA. On the control EEG, the background activity comprised 6- to 7-Hz theta waves with paroxysmal delta waves in the occipital regions. No epileptiform activity was recorded during eye closure in a dark or bright room; photic stimulation also had no effect (Fig. 2). Myoclonus of the upper limbs and perioral area disappeared, and the frequency of absence seizures decreased. After 1 year of follow-up, with phone calls, the patient informed us that the absence seizures occurred rarely. She had attempted suicide 4 months previously and her psychiatric problems still persist.
Fig. 1. Background activity consists of 6- to 7-Hz theta waves. Generalized 3- to 4-Hz spike–slow wave complexes and multiple spike waves appear after each eye closing during video/EEG recording.
444
Case Report / Epilepsy & Behavior 8 (2006) 442–445
Fig. 2. Control EEG recorded in a bright room after treatment. Note the background slowing and absence of epileptiform activity.
3. Discussion This case demonstrates the characteristic clinical and EEG features of EMA. Rarely reported situations like mild mental retardation, focal paroxysmal or generalized slow wave activities, and behavioral disturbances were also observed. Family history is a common feature of EMA; three pairs of twins [6] and two sisters [3] had been described previously. Our patient’s cousin also had a similar history and she was probably misdiagnosed as having an absence epilepsy. Blood samples for genetic screening were obtained from the family and are being stored under suitable conditions in our hospital’s DNA bank for possible further investigation in the future. Mental retardation is seldom a finding in EMA; three patients were reported by Scuderi et al. [7] and two monozygotic twins with behavioral disturbances by De Marco [8]. Because the condition was not properly diagnosed at the time, psychiatric consultation yielded a conclusion relating the symptoms to phenobarbital medication, and our patient was thus treated with olanzapine. A combination of VPA and ethosuximide is the most effective regimen. Clonazepam may be a valid option. CBZ, vigabatrin, tiagabine, and DPH are contraindicated. During follow-up, despite withdrawal of phenobarbital, behavioral disturbances persisted. This psychiatric situation is probably a feature of this syndrome. Eye closure and photosensivity are the main precipitating factors in EMA. Eye closure sensitivity persists into adulthood, but photosensitivity declines. Some patients may self-induce seizures by repetitive or slow eye closure
but this is rare. In our patient, the only EEG that revealed photosensitivity was recorded at the age of 8, and photosensitivity could not be demonstrated later. Although electroencephalography is the most helpful procedure in the diagnosis of EMA, it must be performed under proper conditions and with the correct procedure. Generalized polyspike and polyspike slow waves at a frequency of 3–6 Hz could be observed after each eye closure only in a bright room and with intermittent photic stimulation. This is why we could not show epileptiform abnormalities in the outpatient EEG laboratory because of the darkness. Otherwise, the patient could easily be overlooked and diagnosed with childhood absence epilepsy or tic disorder. Striano et al. reported that 7.46% of patients with idiopathic generalized epilepsy could be diagnosed as having EMA [4]. Slow background activity is an unusual feature of the EEG in EMA [7], as both paroxysmal focal and slow wave activities were present in our patient [3,4,7]. Another interesting and rarely reported electroencephalographic finding is paroxysmal focal activity in the occipital areas of the brain, observed during treatment with antiepileptic drugs [4]. This was suggested to be the effect of age or antiepileptic drug therapy, in agreement with the case described here. It is possible that the background slowing on the EEG and the mild mental retardation of the patient may be due to treatment with inappropriate antiepileptic drugs. But slow background activity and occipital slow wave paroxysms were still present on the EEG even after her antiepileptic drug medication was changed. Results of anatomical and functional imaging of the brain with MRI and interictal SPECT were normal in our case, and there is no known
Case Report / Epilepsy & Behavior 8 (2006) 442–445
cause for these seizures and the other mental and behavioral problems. There are, in fact, few factors differentiating eyelid myoclonia with absences as a type of seizure versus a type of epileptic syndrome (Jeavons syndrome). Jeavons syndrome (eyelid myoclonia with absences) is an idiopathic epileptic syndrome manifested by frequent (pyknoleptic) seizures, consisting of eyelid myoclonia often associated with absences [9]. The seizures are brief (3–6 seconds) and occur mainly after eye closure. They consist of eyelid myoclonia, which persists throughout the attack with or without absences. Absences without eyelid myoclonia do not occur. There is probably an associated tonic component of the involved muscles. If the seizure is prolonged, impairment of consciousness occurs. All patients are highly photosensitive in childhood, but this declines with age. Infrequent generalized tonic–clonic seizures, either induced by light or spontaneous, are probably inevitable in the long term and are likely to occur after sleep deprivation, fatigue, and alcohol indulgence. Myoclonic jerks of the limbs may occur, but are infrequent and random. The eyelid myoclonia of Jeavons syndrome is resistant to treatment and may be lifelong. However, clinical absences may become less frequent with age. Ictal manifestations on the EEG consist mainly of generalized polyspike waves at 3– 6 Hz, which are more likely to occur after eye closure in an illuminated room. Total darkness abolishes the abnormalities related to eye closure. Jeavons syndrome is characterized by unique clinical and EEG features and often genetic clustering [9]. Our patient could be diagnosed as having Jeavons syndrome, but the background slowing on the EEG and the mental and behavioral problems with normal MRI findings are seen in cryptogenic cases, not in idiopathic cases.
445
In conclusion, EMA can be a part of cryptogenic, symptomatic, or idiopathic epileptic syndromes. It is easily diagnosed by properly conducted EEG recordings, but is also misdiagnosed because of the diversity of symptoms like mental retardation, behavioral disturbances, and atypical EEG findings. A suitable EEG recording technique combined with video/EEG monitoring is needed for early and accurate diagnosis of EMA. With respect to the family histories reported in the literature, it is believed that genetic studies will be helpful in the near future. References [1] Engel Jr J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001;42:796–803. [2] Panayiotopoulos CP. Eyelid myoclonia with or without absences. In: Gilman S, editor. Medlink Neurology. San Diego: Arbor; 2005. [3] Giannakodimos S, Panayiotopoulos CP. Eyelid myoclonia with absences in adults: a clinical and video EEG study. Epilepsia 1996;37:36–44. [4] Striano S, Striano P, Nocerino C, et al. Eyelid myoclonia with absence: an overlooked epileptic syndrome. Clin Neurophysiol 2002:287–96. [5] Incorpora G, Sofia V, Pavone P, et al. Clinical heterogenity in eyelid myoclonia, with absences, and epilepsy. Eur J Pediatr 2002;161:175–7. [6] Bianchi A. The Italian League Against Epilepsy: studies of concordance of syndromes in families with absence epilepsies. In: Duncan JS, Panayiotopoulus CP, editors. Typical absence seizures and related epileptic syndromes. London: Churchill Livingstone; 1995. p. 328–37. [7] Scuderi C, Musumeci SA, Ferri R, et al. Eyelid myoclonia with absence in three subjects with mental retardation. Neurol Sci 2000;21:247–50. [8] De Marco P. Eyelid myoclonia with absences in monovular twins. Clin Electroencephalogr 1989;20:193–5. [9] Panayiotopoulos CP. Reflex seizures and reflex epilepsies. In: Panayiotopoulos CP, editor. The epilepsies: seizures, syndromes and management. Oxford: Bladon Medical; 2005. p. 449–96.