Epileptic Seizures in the 4p‐ Syndrome: Report of Two Cases

Kanazawa, Osamu; Irie, Norio; Kawai, Itsuo

doi:10.1111/j.1440-1819.1991.tb01186.x

Cited by 9 publications

(12 citation statements)

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“…Most cases have refractory epilepsy that begins at ages between 6 and 24 months (61-65). The seizure types include generalized tonic-clonic seizures (GTCSs) (63)(64)(65), tonic spasms (63), myoclonic seizures, atypical absences associated with eyelid myoclonia, eye deviation and mouth jerks, partial motor seizures (59), and complex partial seizures (63). The EEG was described in detail by Sgro et al (59), who found sequences of sharp-wave transients on a background of diffuse, high-voltage 3-to 4-Hz slow-wave discharges prominent over the biparietal and frontal regions and activated by eye closure.…”

Section: Deletion Of the Short Arm Of Chromosome 4 Del(4)(pter->p15andmentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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Section: Deletion Of the Short Arm Of Chromosome 4 Del(4)(pter->p15andmentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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“…In 1997, the critical region of WHS was defined as a 165‐kb locus in 4p16.3 (3). Those with WHS often have refractory seizures (4) and easily develop status epilepticus (SE) (5). In this study, we investigated seizure types, clinical courses, and reported effective treatments of epilepsy in WHS.…”

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confidence: 99%

Epilepsy in Wolf‐Hirschhorn Syndrome (4p‐)

Kagitani‐Shimono

Imai

Otani³

et al. 2005

Epilepsia

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Summary: Purpose:We investigated the evolution of epilepsy, seizure types, and effective drugs in Wolf-Hirschhorn syndrome, which is a malformation syndrome often with refractory seizures and status epilepticus.Methods: We reviewed 11 cases of Wolf-Hirschhorn syndrome (age range, 2-25 years; SD, 7.2 years) and who were treated in Osaka University or Osaka Medical Center of Research Institute for Maternal and Child Health.Results: In all patients, febrile or afebrile convulsions had developed. Epileptic seizures included alternative hemiconvulsions, generalized tonic-clonic seizures, focal clonic seizures, tonic seizures, and epileptic spasms. Seizures were often induced by a high fever or a hot bath. Status epilepticus occurred in all patients, including one patient who died at the first status epilepticus. In some cases, intratracheal intubation was needed because of respiratory insufficiency. The effective antiepileptic drugs for long-term use were sodium bromide (four of four), followed by clorazepate (CLP; one of two), and nitrazepam (NZP; two of four). Sodium bromide was particularly effective for preventing status epilepticus. The mean age of last status epilepticus in patients receiving sodium bromide (1 year 8 months) was significantly younger than that in those not treated with sodium bromide (3 year 4 months).Conclusions: We identified that, in most patients of WolfHirschhorn syndrome, the frequency of both seizures and status epilepticus decreased gradually after age 5 years. However, during infancy, status epilepticus sometimes resulted in permanent disability or even death. We propose that sodium bromide should be used as the initial treatment for the prevention of the development of status epilepticus associated with Wolf-Hirschhorn syndrome.

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“…In Table 1 author describes the EEG ®ndings in a slightly dierent manner, but there is obviously a common denominator. This becomes even more apparent when comparing published EEG tracings [8,17] directly. SgroÁ et al [17] were the ®rst to point out that these ®ndings seem to be characteristic for WHS.…”

Section: Discussionmentioning

confidence: 89%

“…In 1996, Clemens et al [5] discovered that PRDS is also caused by 4p deletions and it has been suggested since that WHS and PRDS are just dierent forms of expression of essentially the same syndrome [20], although this is not unequivocally accepted [14,15]. Seizures occur in 50%±100% of WHS [5,18,4] and 80% of PRDS [14] patients, but the electroclinical ®ndings have been reported in only a few cases [1,5,6,12,8,17]. In 1995, SgroÁ et al [17] described a stereotypic electroclinical pattern in four unrelated WHS patients that seemed to be characteristic for WHS.…”

Section: Introductionmentioning

confidence: 97%

“…Atypical absences, occasionally accompanied by a mild myoclonic component (six patients)[17] (Four patients) Slow background activity associated with periodic 2±3 Hz high-voltage slow wave bursts biparietally, mainly elicited by eye closure; waves with superimposed spikes becoming unusual spike wave complexes. Frequent myoclonal jerks[12] (One patient) Excessive high voltage slow waves that appeared paroxysmally, many as 3±4 Hz high voltage spike waves[8] (One patient) Diuse slow spike waves or multiple spike discharges during sleep. (Discharge frequency is not mentioned in the text, but measurements on published EEG tracings show a frequency of 2±3 Hz).…”

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confidence: 99%

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