Jj. Poza et al., Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q, ANN NEUROL, 45(2), 1999, pp. 182-188
We report a large family with a temporal partial epilepsy syndrome inherite
d in an autosomal dominant mode, with a penetrance of about 80%. This epile
psy syndrome is benign, with age of onset in the second or third decade of
life. It is characterized by rare partial seizures, usually secondarily gen
eralized, arising mostly during sleep, without postictal confusion. There i
s a good response to the antiepileptic therapy but often a recurrence of se
izures after drug withdrawal, The partial component, visual (lights, colors
, and simple figures) or auditory (buzzing or "humming like a machine"), th
e existence of temporo-occipital interictal electroencephalographic epilept
iform abnormalities, and the hypoperfusion in the temporal lobe detected by
interictal hexamethylpropyleneamine oxime-technetium 99m (HMPAO-Tc99m) sin
gle-photon emission computed tomography, strongly suggest a lateral tempora
l lobe origin. The genetic analysis found linkage to chromosome 10q, and lo
calized a gene in a 15-cM interval that overlaps a previously found localiz
ation for partial epilepsy in a large three-generation family. This syndrom
e could be called autosomal dominant lateral temporal epilepsy.