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Brief Report: "SETD2" Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
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Lumish, 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
Autism in Two Females with Duplications Involving Xp11.22-p11.23
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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
Foetal Antiepileptic Drug Exposure and Verbal versus Non-Verbal Abilities at Three Years of Age
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Meador, Kimford J.; Baker, Gus A.; Browning, Nancy; Cohen, Morris J.; Clayton-Smith, Jill; Kalayjian, Laura A.; Kanner, Andres; Liporace, Joyce D.; Pennell, Page B.; Privitera, Michael; Loring, David W. – Brain, 2011
We previously reported that foetal valproate exposure impairs intelligence quotient. In this follow-up investigation, we examined dose-related effects of foetal antiepileptic drug exposure on verbal and non-verbal cognitive measures. This investigation is an ongoing prospective observational multi-centre study in the USA and UK, which has enrolled…
Descriptors: Epilepsy, Seizures, Intelligence Quotient, Preschool Children
Key Clinical Features to Identify Girls with "CDKL5" Mutations
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Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry – Brain, 2008
Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…
Descriptors: Females, Genetics, Seizures, Epilepsy
Epilepsy and Mental Retardation Limited to Females: An Under-Recognized Disorder
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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
Spreading Photoparoxysmal EEG Response is Associated with an Abnormal Cortical Excitability Pattern
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Siniatchkin, Michael; Groppa, Sergey; Jerosch, Bettina; Muhle, Hiltrud; Kurth, Christoph; Shepherd, Alex J.; Siebner, Hartwig; Stephani, Ulrich – Brain, 2007
Photosensitivity or photoparoxysmal response (PPR) is a highly heritable electroencephalographic trait characterized by an abnormal cortical response to intermittent photic stimulation (IPS). In PPR-positive individuals, IPS induces spikes, spike-waves or intermittent slow waves. The PPR may be restricted to posterior visual areas (i.e. local PPR…
Descriptors: Females, Stimulation, Seizures, Medicine
Hysterical Seizures: A Sequel to Incest.
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Goodwin, Jean; And Others – American Journal of Orthopsychiatry, 1979
The article describes six cases of hysterical seizures occurring in adolescent girls who had previously experienced incest. In all cases, seizures disappeared after psychotherapeutic exploration of the incestuous experience. The etiology of such hysteroepilepsy is discussed, along with its value as a defense mechanism. (Author/DLS)
Descriptors: Adolescents, Case Studies, Child Abuse, Emotional Disturbances
Two Sisters with Rett Syndrome. Brief Report.
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Haenggeli, Charles A.; And Others – Journal of Autism and Developmental Disorders, 1990
Clinical histories and physical findings are presented for 2 sisters with Rett syndrome. The older sister, age 25, was typically affected, whereas the younger sister, 22 years old, was affected with a seizure disorder showing an unusually early onset. The paper discusses hypotheses in genetic causation of Rett syndrome. (JDD)
Descriptors: Case Studies, Clinical Diagnosis, Congenital Impairments, Females
Improved Spatial Ability Correlated with Left Hemisphere Dysfunction in Turner's Syndrome. Implications for Mechanism.
Rovet, Joanne F. – 1986
This study contrasts the performance of a 17-year-old female subject with Turner's syndrome before and after developing left temporal lobe seizures, as a means of identifying the mechanism responsible for the Turner's syndrome spatial impairment. The results revealed a deficit in spatial processing before onset of the seizure disorder. Results…
Descriptors: Adolescents, Brain Hemisphere Functions, Congenital Impairments, Correlation