1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-5-47-a 10.15844/pedneurbriefs-5-6-10 Seizure Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Benign Familial Neonatal Convulsions http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 06 1991 01 07 2016 5 6 47 47 Copyright: © 1991 The Author(s) 1991 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity

Linkage studies with the chromosome 20 markers D20S19 and D20S20 were performed in two families with benign familial neonatal convulsions at the Department of Pediatrics, The University of Texas Health Science Center, San Antonio, TX.

 Dominant Primary Epilepsy Genetically Heterogeneous Late Adolescence

Linkage studies with the chromosome 20 markers D20S19 and D20S20 were performed in two families with benign familial neonatal convulsions at the Department of Pediatrics, The University of Texas Health Science Center, San Antonio, TX. In the first family with 14 affected, none had seizures after two months of age. In the second family with 13 affected, seizures did not remit until 6 to 24 months; febrile convulsions occurred in two, and one had refractory epilepsy until late adolescence. In family one, the odds were greater than 20,000:1 against linkage at 10% recombination; whereas the data from family two favored linkage with a maximum odds ratio of 45:1 at 6% recombination. It was concluded that this autosomal dominant primary epilepsy of infancy is clinically and genetically heterogeneous. [1]

COMMENT. These data based on large family pedigrees suggest two distinct genetic loci for benign familial neonatal convulsions. The subtype linked to chromosome 20q may be associated with delayed remission and a higher risk for the development of epilepsy. The authors suggest that absence and benign rolandic epilepsy might also show genetic heterogeneity.

 Ryan SG Wiznitzer M Hollman C Torres MC Szekeresova M Schneider S Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity Ann Neurol 1991 May 29 5 469 73 1859177 10.1002/ana.410290504