PURPOSE: To report the clinical and genetic study of a new family with autosomal dominant partial epilepsy with auditory features (ADPEAF). METHODS: All the living affected members underwent a full clinical, neurophysiological, and magnetic resonance imaging (MRI) study. Genetic analysis was performed by typing their DNA with seven microsatellite markers previously found to cosegregate with ADPEAF on chromosome 10q24. RESULTS: The three living affected members had a childhood onset of rare and drug-responsive tonic-clonic seizures constantly preceded by a humming sensation. Routine and sleep electroencephalograms revealed rare and inconstant focal abnormalities over both temporal regions. MRI detected atrophy with increased T2 signal in the subcortical lateral portion of the right temporal lobe in one case. Analysis of 10q24 polymorphic alleles showed the same haplotype in all three affected members but different alleles in unaffected individuals. CONCLUSIONS: ADPEAF is a distinct condition with homogeneous clinical features. Genetic findings are consistent with linkage of ADPEAF to chromosome 10q24.
PURPOSE: To report the clinical and genetic study of a new family with autosomal dominant partial epilepsy with auditory features (ADPEAF). METHODS: All the living affected members underwent a full clinical, neurophysiological, and magnetic resonance imaging (MRI) study. Genetic analysis was performed by typing their DNA with seven microsatellite markers previously found to cosegregate with ADPEAF on chromosome 10q24. RESULTS: The three living affected members had a childhood onset of rare and drug-responsive tonic-clonic seizures constantly preceded by a humming sensation. Routine and sleep electroencephalograms revealed rare and inconstant focal abnormalities over both temporal regions. MRI detected atrophy with increased T2 signal in the subcortical lateral portion of the right temporal lobe in one case. Analysis of 10q24 polymorphic alleles showed the same haplotype in all three affected members but different alleles in unaffected individuals. CONCLUSIONS: ADPEAF is a distinct condition with homogeneous clinical features. Genetic findings are consistent with linkage of ADPEAF to chromosome 10q24.
Authors: E Flex; A Pizzuti; C Di Bonaventura; S Douzgou; G Egeo; J Fattouch; M Manfredi; B Dallapiccola; A T Giallonardo Journal: J Neurol Date: 2005-01 Impact factor: 4.849
Authors: Melodie R Winawer; Filippo Martinelli Boneschi; Christie Barker-Cummings; Joseph H Lee; Jianjun Liu; Constantine Mekios; T Conrad Gilliam; Timothy A Pedley; W Allen Hauser; Ruth Ottman Journal: Epilepsia Date: 2002-01 Impact factor: 5.864
Authors: Laura Rigon; Andrea Vettori; Giorgia Busolin; Gabriella Egeo; Patrizia Pulitano; Lia Santulli; Elena Pasini; Pasquale Striano; Angela la Neve; Valeria Vianello Dri; Clementina Boniver; Antonio Gambardella; Paola Banfi; Simona Binelli; Carlo Di Bonaventura; Salvatore Striano; Fabrizio de Falco; Anna T Giallonardo; Oriano Mecarelli; Roberto Michelucci; Carlo Nobile Journal: Epilepsy Res Treat Date: 2010-12-21