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Generalized epilepsy in Baraitser – Winter cerebrofrontofacial syndrome ☆

View Article: PubMed Central - PubMed

ABSTRACT

Baraitser–Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations.

Key features of BWMS are ptosis, hypertelorism, iris colobomata, and mental retardation.

Generalized epilepsy is seen in half of those with BWMS.

Seizures in BWMS can be absence, myoclonic, tonic, or tonic–clonic.

Seizures in BWMS can be absence, myoclonic, tonic, or tonic–clonic.

No MeSH data available.


Inter-ictal EEG recordings during wakefulness (top) and sleep (bottom). The top EEG is displayed in a longitudinal bipolar montage and the bottom in a referential montage. The awake EEG shows multiple generalized spikes, polyspikes, and polyspikes-and-waves. The asleep EEG shows polyspikes (*) and polyspikes-and-wave complexes (**). All EEG electrodes were placed using the international 10–20 system of electrode placement. Technical parameters; low frequency filter 1 Hz, high frequency filter 70 Hz, notch off, sensitivity 7 μV/mm, time base 30 mm/s, sampling rate 500 Hz.
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f0010: Inter-ictal EEG recordings during wakefulness (top) and sleep (bottom). The top EEG is displayed in a longitudinal bipolar montage and the bottom in a referential montage. The awake EEG shows multiple generalized spikes, polyspikes, and polyspikes-and-waves. The asleep EEG shows polyspikes (*) and polyspikes-and-wave complexes (**). All EEG electrodes were placed using the international 10–20 system of electrode placement. Technical parameters; low frequency filter 1 Hz, high frequency filter 70 Hz, notch off, sensitivity 7 μV/mm, time base 30 mm/s, sampling rate 500 Hz.

Mentions: She was admitted to our epilepsy monitoring unit for continuous video-EEG. Her EEGs revealed normal background activity at 9–10 Hz with well developed and normal sleep potentials. She had frequent generalized spikes, polyspikes, polyspikes-and-waves, and frequent electrographic seizures during wakefulness without apparent clinical findings (Fig. 2). Her generalized spikes, polyspikes, and polyspikes-and-waves were augmented during sleep (Fig. 2). On continuous monitoring two of her stereotyped, typical generalized tonic seizures were captured. There were also multiple electrographic generalized seizures with generalized epileptic recruiting rhythms. Some of these may have represented absence seizures. In a video-EEG of her typical seizure she can be seen to display sudden tonic bilateral abduction of her arms then elevation of her arms (Video 1).


Generalized epilepsy in Baraitser – Winter cerebrofrontofacial syndrome ☆
Inter-ictal EEG recordings during wakefulness (top) and sleep (bottom). The top EEG is displayed in a longitudinal bipolar montage and the bottom in a referential montage. The awake EEG shows multiple generalized spikes, polyspikes, and polyspikes-and-waves. The asleep EEG shows polyspikes (*) and polyspikes-and-wave complexes (**). All EEG electrodes were placed using the international 10–20 system of electrode placement. Technical parameters; low frequency filter 1 Hz, high frequency filter 70 Hz, notch off, sensitivity 7 μV/mm, time base 30 mm/s, sampling rate 500 Hz.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5385583&req=5

f0010: Inter-ictal EEG recordings during wakefulness (top) and sleep (bottom). The top EEG is displayed in a longitudinal bipolar montage and the bottom in a referential montage. The awake EEG shows multiple generalized spikes, polyspikes, and polyspikes-and-waves. The asleep EEG shows polyspikes (*) and polyspikes-and-wave complexes (**). All EEG electrodes were placed using the international 10–20 system of electrode placement. Technical parameters; low frequency filter 1 Hz, high frequency filter 70 Hz, notch off, sensitivity 7 μV/mm, time base 30 mm/s, sampling rate 500 Hz.
Mentions: She was admitted to our epilepsy monitoring unit for continuous video-EEG. Her EEGs revealed normal background activity at 9–10 Hz with well developed and normal sleep potentials. She had frequent generalized spikes, polyspikes, polyspikes-and-waves, and frequent electrographic seizures during wakefulness without apparent clinical findings (Fig. 2). Her generalized spikes, polyspikes, and polyspikes-and-waves were augmented during sleep (Fig. 2). On continuous monitoring two of her stereotyped, typical generalized tonic seizures were captured. There were also multiple electrographic generalized seizures with generalized epileptic recruiting rhythms. Some of these may have represented absence seizures. In a video-EEG of her typical seizure she can be seen to display sudden tonic bilateral abduction of her arms then elevation of her arms (Video 1).

View Article: PubMed Central - PubMed

ABSTRACT

Baraitser–Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations.

Key features of BWMS are ptosis, hypertelorism, iris colobomata, and mental retardation.

Generalized epilepsy is seen in half of those with BWMS.

Seizures in BWMS can be absence, myoclonic, tonic, or tonic–clonic.

Seizures in BWMS can be absence, myoclonic, tonic, or tonic–clonic.

No MeSH data available.