So-called neuronal ceroid lipofuscinosis: Neurophysiological studies in 60 children

Pampiglione, G.; Harden, A

doi:10.1136/jnnp.40.4.323

Cited by 89 publications

(33 citation statements)

References 21 publications

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“…Another neurophysiologic marker of cortical hyperexcitability was the presence of a prominent PPR. This is characteristic of LINCL [30][31][32][33] and has been recently reported in vLINCL associated with CLN1 34 but not in patients with CLN8 mutation. 35 Our observation indicates that PPR was "extreme" in patients with Kufs disease, with a typical finding of 1:1 photomyoclonic response to low-frequency stimulation (as previously described 7 ), but prominent PPRs were also present since the earliest observation in all of our children, thus representing a consistent and "connecting" marker in the different phenotypes.…”

Section: Resultsmentioning

confidence: 87%

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

et al. 2015

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In all patients, multifocal myoclonic jerks and seizures were a key feature, but myoclonic seizures were an early and prominent sign in the teenage/adult form only. Conversely, the childhood-onset form was characterized by initial and severe cognitive impairment coupled with electroretinogram and EEG attenuation. Cortical hyperexcitability, shown by the PPR and enlarged somatosensory evoked potentials, was a universal feature.

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Section: Resultsmentioning

confidence: 87%

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

et al. 2015

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“…Photic response in EEG with low frequency stimulation is characteristically reported with in NCL was noticed in only 22% of our cases [15,31]. The characteristic EEG pattern in LBD described is slowing of back ground activity with recurrent epileptiform discharges: spikes/ polyspikes, with or without waves [24].…”

Section: Electrophysiologymentioning

confidence: 92%

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

Sinha

Satishchandra

Gayathri

et al. 2007

Journal of the Neurological Sciences

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“…Later, these become more widespread. The most specific and diagnostic findings in this entity, however, are photic-induced spikes over the occipital head regions at low rates of flash stimuli (49,50).…”

Section: Late Infantile Neuronal Ceroid Lipofuscinosismentioning

confidence: 99%

The EEG Findings in Extratemporal Seizures

Westmoreland

1998

Epilepsia

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Summary: Extratemporal seizures originate from the frontal, central, parietal, occipital, and midline regions of the brain. The scalp EEG can show various types of interictal and ictal discharges consisting of spikes, spike and wave sharp waves, paroxysmal fast activity, or rhythmic activity in the β, α, θ, or δ frequency ranges. The discharges can occur as focal, regional, lateralized, or secondarily generalized discharges. Discharges arising from the frontal region are varied and at times complex. Centro‐temporal spikes associated with benign epilepsy of childhood have a characteristic blunt spike and wave appearance. Centro‐parietal spikes can occur in children with benign childhood epilepsy or in association with symptomatic epilepsies at any age. Occipital spike discharges have been seen in young children with visual problems, benign occipital epilepsy of childhood, the Sturge‐Weber syndrome, and other symptomatic or structural lesions involving the occipital lobe. There may be problems with detection of the source of origin of seizures secondary to the anatomy of the various regions, deep foci, small restricted foci, rapid spread of epileptiform discharges, and contaminating effects of muscle and movement artifact. Depth or intracranial recordings may help in further localization of foci.

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So-called neuronal ceroid lipofuscinosis: Neurophysiological studies in 60 children

Cited by 89 publications

References 21 publications

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

The EEG Findings in Extratemporal Seizures

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