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Clinical characterization of IRF2BPL mutation: Case series and review of the literature. [PDF]

Medicine (Baltimore)
Lou X, Li W, Pang M, Wang Y, Zhu X, Geng J.   +5 more
europepmc   +1 more source

Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy. [PDF]

Eur J Neurol
Breuillard D, Ouss L, Le Normand MT, Denis TS, Barnerias C, Robert MP, Eisermann M, Boddaert N, Caillaud C, Bahi-Buisson N, Desguerre I, Aubart M.   +11 more
europepmc   +1 more source

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Television‐induced electronegative photoparoxysmal response: an extratemporal seizure mimic?

Epileptic Disorders, 2021
AbstractVideo‐EEG monitoring is an established gold‐standard procedure for diagnosis and differentiation of epileptic and non‐epileptic seizures. Epilepsy misdiagnosis, to which factors such as EEG artifact misinterpretation contribute to, is common, and can have long‐lasting iatrogenic repercussions to the clinical management of affected patients ...
Gabriel, Calado, Nimit, Desai, Dorothee, Kasteleijn, William O, Tatum   +3 more
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Clinical correlations of photoparoxysmal responses

Electroencephalography and Clinical Neurophysiology, 1990
Reilly and Peters (1973) reported that photoparoxysmal responses (PPRs) that outlasted the stimulus correlated significantly with seizures as compared to self-limited PPRs. However, they defined a wide range of activity, including occipital spikes and slow wave bursts, as PPR.
P, Jayakar, K H, Chiappa
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Prognosis of photoparoxysmal response in nonepileptic patients

Neurology, 1993
Photoparoxysmal response (PPR) is sometimes incidentally encountered in EEGs performed for evaluation of nonepileptic symptoms. We conducted the first long-term study of a cohort of nonepileptic patients to determine their risk of having seizures subsequent to incidental recording of PPR. After 6 to 12 years (mean, 9 years), none of the 33 patients had
E L, So, K H, Ruggles, P A, Ahmann, K A, Olson   +3 more
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Cortical Thickness Changes Associated with Photoparoxysmal Response

Brain Topography, 2014
Photoparoxysmal response (PPR) is an EEG trait of spike and spike-wave discharges in response to photic stimulation that is closely linked to idiopathic generalized epilepsy (IGE). In our previous studies we showed that PPR is associated with functional alterations in the occipital and frontal cortices.
Hanganu, Alexandru, Groppa, Stanislav A, Deuschl, Günther, Siebner, Hartwig, Moeller, Friederike, Siniatchkin, Michael, Stephani, Ulrich, Groppa, Sergiu   +7 more
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Juvenile fire setting and the photoparoxysmal response

Annals of Neurology, 1992
AbstractWe report on 3 boys with fire setting, photoparoxysmal responses to intermittent photic stimulation, and temporal lobe electroencephalographic abnormalities. Fire setting resolved and behavior improved with administration of anticonvulsants.
L M, Milrod, D K, Urion
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Photoparoxysmal responses in children with chromosomal aberrations

Epilepsy Research, 2006
Electroencephalographic (EEG) anomalies and epilepsy are commonly observed in the clinical picture of patients with chromosomal aberrations. However, no investigations have been performed on the relationship between chromosomal disorders and photoparoxysmal response (PPR).
GROSSO, S., PUCCI, L., BARTALINI, G., ANICHINI, C., DI BARTOLO, R. M., BAZZOTTI, S., MORGESE, G., BALESTRI, P.   +7 more
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Association of BRD2 polymorphisms with photoparoxysmal response

Neuroscience Letters, 2006
A trait locus for electroencephalographic photoparoxysmal response (PPR) has been mapped to the chromosomal region 6p21 near a susceptibility locus for juvenile myoclonic epilepsy (JME). Linkage disequilibrium mapping revealed strong associations between JME and polymorphisms of the gene encoding the bromodomain-containing protein 2 (BRD2). The present
Susanne, Lorenz, Kirsten P, Taylor, Anne, Gehrmann, Tim, Becker, Hiltrud, Muhle, Meike, Gresch, Ulrike, Tauer, Thomas, Sander, Ulrich, Stephani   +8 more
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Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis

Pediatric Neurology, 1998
A patient presented with rapid developmental regression whose MRI findings suggested a leukodystrophy, but nerve, muscle, skin, and bone marrow biopsies were unrevealing. A characteristic photoparoxysmal response on electroencephalogram provided an important clue for the correct diagnosis of late infantile neuronal ceroid-lipofuscinosis, which was ...
S Z, Naqvi, R L, Beach, D M, Armao, R S, Greenwood   +3 more
openaire   +2 more sources