title: Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.
abstract: Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the leucine-rich glioma-inactivated 1 (LGI1) gene have been reported in up to 50% of families with ADLTE. Attention-deficit/hyperactivity disorder (ADHD) symptoms have not yet been reported in these families. Clinical data were collected from a family with five affected members. Leucine-rich glioma-inactivated 1 exons and boundaries were sequenced by standard methods. Attention-deficit/hyperactivity disorder symptoms were scored based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Affected members had seizures with auditory features and psychic auras, and some experienced nightmares. A heterozygous c.431+1G>A substitution in LGI1 was detected in all members. Significantly more hyperactivity symptoms were found in family members carrying the LGI1 mutation. This study expands the phenotypic spectrum associated with ADLTE due to LGI1 mutation and underlines the need for more systematic evaluation of ADHD and related symptoms.
authors: SEIN, Epilepsy Institute in the Netherlands, Zwolle, The Netherlands. bberghuis@sein.nl
authors: B
authors: B
authors: Berghuis
authors: E H
authors: EH
authors: Brilstra
authors: D
authors: D
authors: Lindhout
authors: S
authors: S
authors: Baulac
authors: G J
authors: GJ
authors: de Haan
authors: M
authors: M
authors: van Kempen
mesh_terms: D001289:Attention Deficit Disorder with Hyperactivity / Q000209:etiology* / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D004833:Epilepsy, Temporal Lobe / Q000150:complications* / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins