Small; <10 unrelated families have been reported.

Age at onset
Markedly varies. Range is 2 months to 43 years; median 10 years.

Males = females.

Neurological and mental state

Autosomal dominant inheritance with ~60% penetrance. Genetic heterogeneity. Mapped to chromosome 22q11-q12 and there may be possible linkage to chromosome 2q.

Clinical manifestations
Different family members have focal seizures emanating from different cortical locations that include temporal, frontal, centroparietal, or occipital lobe regions. Each individual patient has the same electro-clinical pattern of single location focal epilepsy.

Secondarily generalized tonic-clonic seizures (GTCS) in 60% to 86%.

Seizures often occur in sleep.

Diagnostic procedures
Neuroimaging usually normal.

Inter-ictal EEG
Focal epileptiform abnormalities in most patients. Location varies within family members in the temporal, frontal, centroparietal, or occipital regions, but for each individual a single focus remains constant over time. They are facilitated or brought up in sleep EEG. Clinical seizures are concordant with EEG localization. EEG severity varies significantly in different individuals and does not correlate with seizure frequency. Normal family members may also have an EEG epileptiform focus, thus indicating that this is likely to be a marker for this disorder.

Ictal EEG
Focal seizure discharges.

Great intra-familial variability. Severity varies among family members; some may be intractable to medication but usually these are infrequent, easily controlled, or even asymptomatic, manifesting only with EEG foci.

Differential diagnosis
Symptomatic focal epilepsies.

Management options
AEDs indicated for focal seizures.

This page was adapted from:

The educational kit on epilepsies: The epileptic syndromes By C. P. Panayiotopoulos Originally published by MEDICINAE 21 Cave Street, Oxford OX4 1BA
First published 2006 and reprinted in 2007

Authored By: 
C. P. Panayiotopoulos MD, PhD, FRCP
Authored Date: 
Reviewed By: 
Steven C. Schachter MD
Sunday, June 1, 2008