Epilepsy & Seizures
Epileptic lesions due to malformation of cortical development
Sep. 06, 2023
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• Andermann syndrome is a unique disorder characterized by agenesis of the corpus callosum in the majority of cases, progressive sensorimotor neuropathy, and cognitive deficits.
• It is an autosomal recessive disorder found mostly among French Canadians originating from the Charlevoix County in the province of Quebec. However, it is described in other ethnic groups, including Turks, various European nationalities, Roma (gypsy), and Algerian and sub-Saharan African cohorts.
• The gene responsible, SLC12A6, is located at chromosomal locus 15q13-q15.
This unique autosomal recessive disorder, characterized by progressive sensorimotor neuropathy, mental retardation, and agenesis of the corpus callosum, was first described by Andermann and colleagues (07; 04).
The syndrome was defined more extensively in subsequent years (03; 06). The eponym was first used to refer to this entity by Larbrisseau and colleagues (23). Most cases have been found among members of the French-Canadian population, originating from the Charlevoix County, who eventually migrated to the Saguenay-Lac-Saint-Jean region in the Province of Québec. A high degree of consanguinity exists in this population. Many affected individuals have been traced to a common ancestral couple from France who married in Québec City in 1657, thus, demonstrating a "founder effect" (07; 05; 11; 21).
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