Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 13-year-old mentally retarded boy suffered from repeated vomiting attacks since infancy. Each episode lasted 2 to 10 days, and was precipitated by respiratory infection, exercise or stress. During an attack he became irritated, agitated and amnesic, but did not have headaches or seizures. Associated findings were transient elevation of serum creatine kinase (CK) (331-3381 IU/l), and of plasma ACTH and cortisol. The raised CK level was the result of muscle hypertonicity. Ictal EEGs showed delta activity in the front-temporal areas, and inter-ictal IMP-SPECT revealed hypoperfusion in both temporal regions. Unlike the periodic ACTH-ADH discharge syndrome, neither hypertension nor depression developed. These attacks were diagnosed as a migraine equivalent and were suppressed with phenytoin. From the EEG and SPECT findings, we concluded that the vomiting and behavioural changes were related to the paroxysmal vascular abnormality in the temporal regions, but it was not easy to make the distinction between migraine and focal epilepsy. Before a diagnosis of the periodic ACTH-ADH discharge syndrome is made, the possibility of migraine equivalent should be considered.
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PMID:Cyclic vomiting and elevation of creatine kinase associated with bitemporal hypoperfusion and EEG abnormalities: a migraine equivalent? 962 97

A multicentre, long-term, open-label, add-on study of vigabatrin was undertaken in 23 pretreated children with infantile spasms. After 3 months of vigabatrin therapy 11 of the 23 patients had become seizure-free. At this time two-thirds of these 11 children still received other antiepileptic drugs (AEDs) in addition to vigabatrin (mostly valproic acid and/or dexamethasone). After a mean follow-up time of 5 1/4 years (range: 4 1/4-6 1/2) 72% of 18 evaluable patients (two children died, three were lost to follow-up) revealed seizure freedom for at least 1 year. The mean duration of vigabatrin therapy had been 2 1/2 years (range: 2 weeks to 4 3/4 years). Two-thirds of the 18 children continued to take AEDs, three of them undergoing vigabatrin monotherapy. Relapses of infantile spasms had occurred in 14% of the children. The rate of vigabatrin side effects (10%) was low. At follow-up, the EEG of 13 and the 18 patients demonstrated focal or multifocal epileptic discharges. Fifty-five percent had developed another epilepsy (focal epilepsy, secondary generalized epilepsy or myoclonic-astatic epilepsy). With respect to mental functions, three children were normal or slightly retarded, four showed moderate retardation and 11 revealed severe or very severe retardation. This long-term result is comparable to that in ACTH studies with unselected patients. The conclusions are: (1) vigabatrin is an effective drug for the short-term and long-term treatment of refractory infantile spasms; (2) the relapse rate is low; (3) vigabatrin is well tolerated; (4) with respect to secondary epilepsies and mental functions the long-term outcome in these pretreated children is similar to that in earlier studies with ACTH or corticosteroids.
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PMID:Long-term follow-up study of vigabatrin in pretreated children with West syndrome. 973 4

A 19-year-old woman complained of long-standing, frequent, debilitating brusque movements triggered by unexpected stimuli. She was neurologically normal and neuroimaging was also normal. Conspicuous startle reactions were easily reproduced under EEG and video monitoring: the interictal EEG was normal, the ictal recordings doubtful; clinically, the startle reaction was asymmetric, with elevation of the left limbs. The diagnosis of hyperekplexia and startle epilepsy were discussed. We learned that she had been evaluated at age 3-4 months for spontaneous, generalised tonic-clonic seizures and "infantile spasms", in fact for early-onset startle reactions triggered by noise or contact, in association with prominent EEG changes. A full remission had been achieved under ACTH therapy, but the startle reactions had reappeared at around age six. The patient was successfully treated with carbamazepine. The history, clinical and neurophysiological data led us to discuss the diagnosis of hyperekplexia and startle epilepsy. We concluded that the patient had an unusual form of cryptogenic focal epilepsy originating from the supplementary motor area, presenting as strictly stimulus-triggered "flash" seizures.
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PMID:Startle response: epileptic or non-epileptic? The case for "flash" SMA reflex seizures. 1131 16

We conducted a Japanese Expert Consensus (EC) study for the treatment of childhood epilepsies following the method reported from the USA and EU (Wheless JW, et al., 2005, 2007), and compared the results to reveal differences in the choice of antiepileptic drugs (AEDs). The subjects were 41 pediatric board-certified epileptologists who responded to the 23 questionnaires. A 9-point scale was used to grade each AED, in which 9 was the best whereas 1 was the worst for appropriateness of choice for each epileptic syndrome. Lamotrigine (LTG) is frequently used for idiopathic generalized epilepsy except for valproate sodium (VPA) in both the USA and EU, while VPA and clonazepam were the main AEDs in Japan. For cryptogenic complex partial epilepsy and benign focal epilepsy, carbamazepine was a first-line AED among the USA, EU, and Japan, although other first-line AEDs were oxcarbamazepine (OCBZ), LTG, and levetiracetam (LEV) in both the USA and EU, while it was zonisamide in Japan. Regarding the treatment for symptomatic generalized epilepsy, West syndrome and Lennox-Gastaut syndrome, VPA and ACTH were first-line AEDs commonly used in the USA, EU, and Japan, while the other first-line AEDs were topiramate (TPM) and LTG in the USA and EU, and CZP and clobazam in Japan. This Japanese EC study demonstrated the difference in the selection of AEDs for epileptic syndromes between the USA and EU, which use more newly-introduced AEDs including TPM, LTG, OCBZ and LEV as first-and second-line AEDs, and Japan.
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PMID:[Treatment of childhood epilepsies: Japanese Expert Consensus study and a comparison of the results with those of the USA and EU]. 2066 30

A modified ketogenic diet was demonstrated to be remarkably effective in a child with intractable symptomatic focal epilepsy with combined seizures of focal seizures and epileptic spasms (ES) in a cluster (ESC). ES started at 8 months of age and disappeared with ACTH therapy. At the age of 13 months, the child began to have intractable focal seizures that, later, were followed by ESC 10 times a day. Brain MRI showed only a non-specific diffuse cerebral atrophy. Interictal EEG showed high amplitude diffuse disorganized slow waves with prominent sharp waves predominant over the bilateral occipital region. We started a modified ketogenic diet (mKD) treatment without fasting or a water/calorie limitation. Since the 20th day of mKD, the patient has been seizure free (6 months) without adverse effects. EEG showed remarkable improvement and he has some improvement in the developmental milestones. A modified ketogenic diet is easier to start and continue compared to the classic ketogenic diet, and should be tried in intractable epilepsies that are not treatable surgically early in life from the developmental prognosis point of view.
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PMID:[Remarkable effect of a modified ketogenic diet in a boy with focal seizures followed by epileptic spasms in a cluster]. 2180 Jun 96