Publication Date
| In 2025 | 0 |
| Since 2024 | 0 |
| Since 2021 (last 5 years) | 0 |
| Since 2016 (last 10 years) | 0 |
| Since 2006 (last 20 years) | 3 |
Descriptor
| Autism | 3 |
| Epilepsy | 3 |
| Females | 3 |
| Seizures | 3 |
| Developmental Delays | 2 |
| Genetic Disorders | 2 |
| Genetics | 2 |
| Adolescents | 1 |
| Brain | 1 |
| Child Development | 1 |
| Clinical Diagnosis | 1 |
| More ▼ | |
Author
| Afawi, Zaid | 1 |
| Andrews, P. Ian | 1 |
| Bayly, Marta A. | 1 |
| Berkovic, Samuel F. | 1 |
| Burrows, Linda | 1 |
| Chung, Wendy K. | 1 |
| Derry, Christopher P. | 1 |
| Devinsky, Orrin | 1 |
| Dibbens, Leanne M. | 1 |
| DuPont, Barbara R. | 1 |
| Duron, Reyna M. | 1 |
| More ▼ | |
Publication Type
| Journal Articles | 3 |
| Reports - Research | 3 |
Education Level
Audience
Laws, Policies, & Programs
Assessments and Surveys
What Works Clearinghouse Rating
Peer reviewed
Direct linkLumish, Heidi S.; Wynn, Julia; Devinsky, Orrin; Chung, Wendy K. – Journal of Autism and Developmental Disorders, 2015
Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a…
Descriptors: Autism, Pervasive Developmental Disorders, Intellectual Disability, Epilepsy
Edens, Anna C.; Lyons, Michael J.; Duron, Reyna M.; DuPont, Barbara R.; Holden, Kenton R. – Developmental Medicine & Child Neurology, 2011
We present two phenotypically similar females with Xp duplication who have autism and epilepsy. Case 1 is a 14-year-old Honduran female with autism and medically refractory complex partial, secondarily generalized epilepsy. Case 2 is a 3-year-old Austrian female with autism and medically refractory complex partial epilepsy. Both patients also…
Descriptors: Epilepsy, Females, Patients, Autism
Scheffer, Ingrid E.; Turner, Samantha J.; Dibbens, Leanne M.; Bayly, Marta A.; Friend, Kathryn; Hodgson, Bree; Burrows, Linda; Shaw, Marie; Wei, Chen; Ullmann, Reinhard; Ropers, Hans-Hilger; Szepetowski, Pierre; Haan, Eric; Mazarib, Aziz; Afawi, Zaid; Neufeld, Miriam Y.; Andrews, P. Ian; Wallace, Geoffrey; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally; Derry, Christopher P.; Korczyn, Amos D.; Gecz, Jozef; Mulley, John C.; Berkovic, Samuel F. – Brain, 2008
Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance recognition of this disorder. We ascertained four unrelated families (two Australian, two Israeli) where seizures in females were transmitted through…
Descriptors: Epilepsy, Mental Retardation, Females, Genetics
