myoclonic seizures

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Management of refractory neonatal seizures

Management of refractory neonatal seizures

epilepsy, preterm birth and fetal distress are common as well as therapy-resistant myoclonic seizures with a suppression- burst EEG pattern; however, even early treatment seems to be associated with a poor outcome, in contrast with pyridoxine- dependent epilepsy where the outcome (apart from the need for long-life treatment) is rather good. Very low PLP concen- trations in cerebrospinal fluid are the only reliable biomarker, and would need collection and preservation by deep-freezing before treatment. Today we know that pyridoxine-dependent seizures are caused by an autosomal recessive defect of the antiquitin gene, and pipecolic acid and alpha-aminoadipic semialdehyde in plasma, urine, and cerebrospinal fluid are reliable diagnostic biomarkers. 74,75
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Thyroid profile in children on anticonvulsant
monotherapy

Thyroid profile in children on anticonvulsant monotherapy

as atypical absence of Lennox-Gastaut syndrome or continuous spike-wave of slow sleep. Numerous AEDs are licensed for use as adjunctive or as monotherapy in a range of seizure types and epilepsy syndromes vigabatrin, lamotrigine, gabapentin, topiramate, tiagabine, oxcarbazepine, levetiracetam, pregabalin, zonisamide, rufinamide, lacosamide, eslicarbazepine and, most recently, perampanel 30 . Lamotrigine has a monotherapy licence for patients aged 12 years and older but as adjunctive therapy from two years. Vigabatrin is used as monotherapy in children with infantile spasms in west syndrome. Topiramate is now used in children above six years. Pregabalin, zonisamide and lacosamide have licences for use as adjunctive therapy in people aged 18 years and above. Perampanel has a license for adjunctive therapy of focal seizures over the age of 12 years. Of these new AEDs, lamotrigine, topiramate and levetiracetam would appear to have the broadest spectrum of action, being effective against many generalised and focal seizure types, and relatively free of serious side effects, other than lamotrigine that can produce allergic or idiosyncratic rash, that rarely develops into Stevens-Johnson syndrome. Lamotrigine can be effective in controlling typical absence seizures but not as effective in the treatment of myoclonic seizures. Levetiracetam also has a broad spectrum of action against different seizure types and has a very good safety profile with features of hostility seen in some cases.
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SYNGAP1 encephalopathyA distinctive generalized developmental and epileptic encephalopathy

SYNGAP1 encephalopathyA distinctive generalized developmental and epileptic encephalopathy

We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n = 5) or atonic (n = 8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences, and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic encephalopathy (DEE). Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypotonia (67%); sleeping problems (62%); autism spectrum disorder (54%); and ataxia or gait abnormalities (51%).
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Dravet syndrome

Dravet syndrome

A significant number of DS patients has a family history of seizures disorders or febrile seizures with phenotypes consistent with the GEFS+ spectrum, but the first febrile seizures episode is usually protracted. Between the 1st and 4th year of life additional febrile and afebrile seizures appear. The afebrile seizures are more frequently unilat- eral, tonic clonic, or secondary generalized, evolving later on towards other types of epilepsy including myoclonic, atypical absence, and atonic seizures, alternating partial seizures and convulsive status epilepticus. Recurrent sta- tus epilepticus which is always provoked by fever is a fre- quent event. Myoclonic seizures are not invariably present at onset. In the majority of cases, convulsive episodes have a focal origin. Generalized seizures are atypical absence with 2-3,5 Hz spike and waves discharges. Tonic seizures are very rare. Seizures, and in particular myoclonic sei- zures, occur very frequently during the first 4-5 years of life and are extremely drug resistant [12]. Some drugs such carbamazepine, lamotrigine, phenobarbital and pheni- toin can exacerbate epilepsy.
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Child Neurology: Dravet syndromeWhen to suspect the diagnosis

Child Neurology: Dravet syndromeWhen to suspect the diagnosis

Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is an epileptic encephalopathy that presents with prolonged seizures in the first year of life. The sei- zures often occur with fever or illness, and are frequently initially categorized as febrile seizures. The correct diagnosis of DS and appropriate follow-up are typically delayed. The EEG is normal at onset, and neuroimaging reveals no structural lesion. Early development is normal, but signs of regression appear in the second year of life and are often accompanied by convulsive status epilepticus, alternating hemiconvulsions, and myoclonic seizures. Diagnosis can be confirmed by genetic testing that is now available, and shows mutations within the SCN1A gene. Early recogni- tion and diagnosis of DS and management with appropriate anticonvulsants and treatment plan may reduce the seizure burden and improve long-term developmental outcome. Neurology ® 2009;
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Epidemiology of epilepsy in Tasmania : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Epidemiology at Massey University, Wellington, New Zealand

Epidemiology of epilepsy in Tasmania : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Epidemiology at Massey University, Wellington, New Zealand

Reutens et al developed a diagnostic interview predominantly comprising open-ended questions, in a structure similar to clinical history taking (see Appendix 20) (Reutens et al. 1 992). Although it was developed for use in population studies, its format and design makes it less suitable with respect to administration and interpretation for large-scale epidemiological research, as it is constructed to obtain predominantly verbatim recording from the patient and witness on seizure descriptions. Direct questions are also used to determine mostly the number and any order of progression of different seizure types, but its strength lies in having more questions on specific generalised non-convulsive seizures. However, this only differed with respect to the SSCI with respect to, a question for rare tonic seizures, a more col loquial description for absence seizures, five more specific questions relating to the body parts affected for the rare atonic seizures, as well as predominantly formatting changes related to myoclonic seizures (see Appendix 20).
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"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

Landau Kleffner (LKS) is a rare syndrome of unknown etiology (more common in the children between 5 and 7 years af age) which consists mainly of loss of language skills in children previously normal [110,28]. Language regression may occur suddenly or in a prolonged period and aphasia can be primarily receptive or expressive; probably the language disorder can be defined as a ver- bal auditory agnosia, that consists of a loss of verbal comprehension, which may be confused as a acquired deafness [111]. This aphasia is followed by gradual dete- rioration also in verbal production and, finally, mutism and failure to respond to non-verbal sounds [111]. Asso- ciated with language disorder the children with LKS in the majority of cases present different types of seizures, which include episodes of eye blinking or ocular devia- tion, head drop and minor automatisms with secondary generalization. In other cases, sizures are focal or tonic- clonic generalized seizures, typical absences, partial complex and occasionally myoclonic seizures [112]. Early response to treatment and late outcome in LKS can be markedly different if the onset is in pre-linguistic phase (onset under the age of 3-4 years) and these chil- dren can be misdiagnosed for autistic due to impaired linguistic skills [113].
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<p>Status epilepticus in patients with genetic (idiopathic) generalized epilepsy</p>

<p>Status epilepticus in patients with genetic (idiopathic) generalized epilepsy</p>

The study population consisted of 153 patients (including 106 women; 69.3%); 13.5% of 1132 patients were treated in the clinic during the study period. The mean age of the patients at the time of inclusion in the study was 31.6 years (SD ±9.8), and the mean age at the onset of epilepsy was 15.6 years (SD ±5.6). The mean duration of follow-up of the cohort members was 9.3 years (SD ±5.2, range 1 – 20 years). Juvenile myoclonic epilepsy was the most common syndrome observed among patients (74; 48.4%), followed by epilepsy with generalized tonic – clonic seizures alone (43; 28.1%) and juvenile absence epilepsy (29; 18.9%).
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The genetic determinants of lamotrigine dosing in epilepsy

The genetic determinants of lamotrigine dosing in epilepsy

Brodie et al compared the efficacy and safety of LTG against CBZ in a cohort of 146 patients with partial-onset seizures and 122 with primary generalised tonic-clonic seizures. 76 Dosing regimens were as follows; LTG 50mg/day, titrated up to 150mg/day over a 4 week period; CBZ 200mg/day, titrated up to 600mg/day over a 4 week period. Dose remained fixed until 24-weeks, at which point it could be adjusted, if clinically indicated, for the remaining 24-weeks. The study showed that for patients with partial-onset seizures, 35% were fully controlled on LTG in comparison to 37% on CBZ, indicating no significant difference in efficacy between the two agents. However, LTG was shown to be better tolerated than CBZ overall; more patients withdrew due to adverse effects on CBZ (21%) than LTG (11.5%), and a comparison of the areas under the Kaplan-Meier curve (for time to withdrawal) supported a significant difference in favour of LTG (hazard ratio 1.57 [95% confidence interval 1.07- 2.31]). 76 In addition to time to withdrawal, 15 specific adverse effects were screened for and analysed, with a statistically significant difference shown between groups for levels of ‘sleepiness’. The LTG group was shown to have significantly lower levels of withdrawal due to sleepiness than CBZ (12% vs 22% respectively [95% CI -28 to -1]), although this should be interpreted with caution as data was obtained from patient reports, was not standardised, and as such may be susceptible to recall bias.
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A Study of Clinical Profile of Hyperglycemic Seizures

A Study of Clinical Profile of Hyperglycemic Seizures

The violence and aggression that are said to characterize patients with temporal lobe epilepsy take this form of non-directed oppositional resistance in response to restraint during the period of automatic behavior (called so, because the patient presumably acts like automation). Unprovoked assaults or outbursts of intense rage or blind fury are unusual. Rarely laughter or roaming may be the most striking feature of an automatism (Gelastic epilepsy and Epilepsia procursiva respectively); or simply wander aimlessly either as an ictal or postical phenomenon (Poriomania). Dystonic posturing of the arm and leg contra lateral to the seizure focus is found to be a frequent accompaniment. After the attack, the patient usually has no memory about what was said or done. Any type of CPS may proceed to tonic spasm or other forms of secondary generalized seizures.
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Predictors of Childhood Intractable Epilepsy- A Retrospective Study in A Tertiary Care Hospital

Predictors of Childhood Intractable Epilepsy- A Retrospective Study in A Tertiary Care Hospital

It was a retrospective study. Duration of study was 2 years from January 2004 to December 2005. Study was done at Child Development and Neurology Unit in the Department of Paediatrics of Bangabandhu Sheikh Mujib Medical University. Inclusion criteria was epileptic children of 1 month to 15 years of age. Total 73 epileptic patients were enrolled in this study. Data of studied patients were collected purposfully on working days. They were divided into early onset group (onset of seizures before one year) and late onset group (onset of seizures after one year).

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EEG discharges on awakening: A marker of idiopathic generalized epilepsy

EEG discharges on awakening: A marker of idiopathic generalized epilepsy

when standard EEG recordings and photic stimula- tion are nondiagnostic. Because few patients in this series reportedly had clinical seizures, these events do not seem to be a target for A-EEG. Although rare, EDA is highly specific of IGE, and when associated with consistent clinical features, it might render fur- ther investigation unnecessary.

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Headache in juvenile myoclonic epilepsy

Headache in juvenile myoclonic epilepsy

Abstract The objective of this study was to assess the prevalence of and risk factors for primary headaches in juvenile myoclonic epilepsy (JME). Headache was classi- fied in 75 patients with JME using a questionnaire, and its prevalence was correlated with the literature on the general population and clinical data. Headache was present in 47 patients. Thirty-one had migraine [20 migraine without aura (MO), 11 migraine with aura (MA)]. Fourteen patients with migraine had tension-type headache (TTH) in addition. Sixteen had only TTH. Comparison with the general popu- lation revealed a significantly higher prevalence of migraine (RR 4.4), MO (3.6), MA (7.3) and TTH (3.4) in JME. Risk factors for migraine and MO were female gender and for MA family history of migraine in first-degree relatives. Migraine and MA were associated with fairly controlled generalized tonic clonic seizures, MO with absences. Together with its strong genetic background, JME appears to be an attractive homogenous subtype of epilepsy for genetic research on migraine.
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Mystery Case: A young boy with myoclonic jerks

Mystery Case: A young boy with myoclonic jerks

Interestingly, the patient ’ s myoclonus was observed to be more symptomatic during the day than at night- time. His mother notes that when she covers his eyes she can often lessen the myoclonic jerks and abort a generalized convulsion. She has taken to patching his left eye in order to help stop the jerking and seizures. He was evaluated at our institution by neuro-ophthalmology and given 3 pairs of FL-41 glasses to try at home: dark pink, light yellow, and regular dark. His mother reported that his myoclonus was somewhat better with the regular dark glasses but remarkably improved with the dark pink glasses.
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Evaluation of Anticonvulsant and Anxiolytic Activity of Methanolic Extract of Leaves of Syzygium Aqueum (Brum. F)

Evaluation of Anticonvulsant and Anxiolytic Activity of Methanolic Extract of Leaves of Syzygium Aqueum (Brum. F)

Generalized seizures occur when epileptic activity occurs throughout the brain. Patient becomes unconscious from the start, and will have a major convulsion with both tonic (stiffening) and clonic (jerking) phase. After the seizure, the patients are unconscious and then groggy for a while. They may want to sleep. There will be no memory of what went on during the seizure. The seizure begins with a fall, possibly accompanied by a sudden cry, followed by tonus and then, after a while, clonus. There may be shallow breathing or temporarily suspended breathing, with bluish skin or lips and loss of bladder or bowel control. Towards the end of the seizure, patient may salivate profusely. Tonic-clonic seizures usually last 1 to 3 minutes, seldom longer.
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A Study of 50 cases of Focal Seizures with CT Scan Correlation

A Study of 50 cases of Focal Seizures with CT Scan Correlation

A special subtypes termed autosomal dominant lateral temporal epilepsy ( also called autosomal dominant nocturnal epilepsy) has been reported. Onset is in the second or third decade of life. The subtype is characterized by rare partial seizures, usually secondarily generalized, arising mostly in sleep, simple partial sensory phenomena of visual ( lights, colors, simple figures) or auditory ( buzzing or humming) sense may occur. Paroxysmal activity may be seen in the EEG interictally in the temporal or occipital leads. The condition responds to antiepileptic drugs but may require prolonged administration. Genetic analysis has found linkage to chromosome 10q, locus EBN1, gene KCNQ2.
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Clinical Reasoning: A 72-year-old man with rapid cognitive decline and unilateral muscle jerks

Clinical Reasoning: A 72-year-old man with rapid cognitive decline and unilateral muscle jerks

The patient received 5 days of plasma exchange and was discharged. Corticosteroids were not given at this time due to his diabetes, psychiatric symptoms, and availability of plasma exchange. The myoclonic jerks resumed at home, and his other symptoms persisted. During a follow-up visit, the patient was initially alert but became progressively drowsy and unresponsive. Right-sided myoclonic jerks were apparent in his face, arm, and leg. He was readmitted to the hospital, with concern for status epilepticus or worsening of his underlying condition.

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Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease

Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease

experienced child neurologist and epileptologist in India three years later. PME or neurodegenerative disorder should have been suspected without delay, particularly while there was no response to multiple AEDs and there was functional regression noted in a child with completely normal developmental skills. The commonest diagnostic mistake in such a case at early state is juvenile myoclonic epilepsy (JME), idiopathic generalized epilepsy (IGE) or complex partial seizures 1,2,38 , differentiated clinically with the

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Clinical Profile and Evaluation of New Onset Seizure in Adults

Clinical Profile and Evaluation of New Onset Seizure in Adults

In our study Alcohol withdrawal seizures (34%) was the commonest cause, followed by idiopathic epilepsy (29%), Neuro infection (16%),CVA(12%) and Metabolic seizures(9%).It was very difficult to differentiate between tuberculoma and NCC based on CT findings. We did chest X ray PA view and TB ELISA for patients suspected of tuberculoma. There was a history of chronic cough in one patient. Another patient who was diagnosed to have pulmonary tuberculosis 1 year ago had taken anti tubercular drugs for about 3 months and had presented with generalized tonic clonic convulsions. The CT scan showed 3 large ring enhancing lesions which were more than 20 mm in size.
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Case Report of Management Problem of Juvenile Myoclonic Epilepsy

Case Report of Management Problem of Juvenile Myoclonic Epilepsy

The selection of antiepileptic drugs for the treatment of JME depends on several factors, including the pa- tient’s comorbidities, preferences, previous history of adverse events, gender and pharmacogenetics [17]. In most patients with JME, seizures are well controlled with monotherapy. Valproic acid has been considered the treatment of choice for JME for many years, but epileptologists are increasingly using other choices as first-line therapies. Approximately 80% of patients with JME become seizure free with valproate monotherapy. Also, other antiepileptic medications including levetiracetam (LEV), lamotrigine (LTG), topiramate (TPM) and zonisamide (ZNS) may be used as first line or as add-on therapy.
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