Seizure Disorders in Down Syndrome

Clinical and EEG Features of Epilepsy in Children and Adolescents in Down Syndrome

“…In the younger age group, primarily infantile spasms and tonic-clonic seizures with myoclonus are observed, and the older patients often have partial simplex or partial complex seizures as well as tonic-clonic seizures. 15 In contrast in our study, most children with Down syndrome had the first epileptic attacks at the school age.…”

Clinical and EEG Features of Epilepsy in Children and Adolescents in Down Syndrome

“…In the younger age group, primarily infantile spasms and tonic-clonic seizures with myoclonus are observed, and the older patients often have partial simplex or partial complex seizures as well as tonic-clonic seizures. 15 In contrast in our study, most children with Down syndrome had the first epileptic attacks at the school age.…”

Mortality and Cancer Incidence Among Individuals With Down Syndrome

“…53 Inherited alterations in this protein also have been found in a small proportion of multiplex families with Alzheimer disease. 11 The increased mortality attributed to epilepsy in our study is in accord with the high prevalence of epilepsy (8%-17%) previously reported in adults with DS 52,54 and with the elevated mortality attributed to epilepsy in a British study. 48 Epilepsy has been noted more often in the subset of individuals with DS who have been diagnosed as having dementia or Alzheimer disease, 52 a relationship also seen in the general population.…”

Intersectin Activates Ras but Stimulates Transcription through an Independent Pathway Involving JNK

“…Interestingly, ITSN expression is elevated in the brains of Down syndrome patients, consistent with the localization of ITSN to the Down syndrome region of chromosome 21 (43). Given the increased incidence of seizure activity in Down syndrome patients (44), elevated ITSN levels may lead to elevated JNK activity resulting in an increase in neuronal apoptosis following seizures thereby contributing to increased neurodegeneration and cognitive impairment associated with this syndrome.…”

Clinical and EEG Features of Epilepsy in Children and Adolescents in Down Syndrome

“…In the younger age group, primarily infantile spasms and tonic-clonic seizures with myoclonus are observed, and the older patients often have partial simplex or partial complex seizures as well as tonic-clonic seizures. 15 In contrast in our study, most children with Down syndrome had the first epileptic attacks at the school age.…”

Mortality and Cancer Incidence Among Individuals With Down Syndrome

“…53 Inherited alterations in this protein also have been found in a small proportion of multiplex families with Alzheimer disease. 11 The increased mortality attributed to epilepsy in our study is in accord with the high prevalence of epilepsy (8%-17%) previously reported in adults with DS 52,54 and with the elevated mortality attributed to epilepsy in a British study. 48 Epilepsy has been noted more often in the subset of individuals with DS who have been diagnosed as having dementia or Alzheimer disease, 52 a relationship also seen in the general population.…”

Intersectin Activates Ras but Stimulates Transcription through an Independent Pathway Involving JNK

“…Interestingly, ITSN expression is elevated in the brains of Down syndrome patients, consistent with the localization of ITSN to the Down syndrome region of chromosome 21 (43). Given the increased incidence of seizure activity in Down syndrome patients (44), elevated ITSN levels may lead to elevated JNK activity resulting in an increase in neuronal apoptosis following seizures thereby contributing to increased neurodegeneration and cognitive impairment associated with this syndrome.…”

Clinical and EEG Features of Epilepsy in Children and Adolescents in Down Syndrome

“…In the younger age group, primarily infantile spasms and tonic-clonic seizures with myoclonus are observed, and the older patients often have partial simplex or partial complex seizures as well as tonic-clonic seizures. 15 In contrast in our study, most children with Down syndrome had the first epileptic attacks at the school age.…”

Mortality and Cancer Incidence Among Individuals With Down Syndrome

“…53 Inherited alterations in this protein also have been found in a small proportion of multiplex families with Alzheimer disease. 11 The increased mortality attributed to epilepsy in our study is in accord with the high prevalence of epilepsy (8%-17%) previously reported in adults with DS 52,54 and with the elevated mortality attributed to epilepsy in a British study. 48 Epilepsy has been noted more often in the subset of individuals with DS who have been diagnosed as having dementia or Alzheimer disease, 52 a relationship also seen in the general population.…”

Intersectin Activates Ras but Stimulates Transcription through an Independent Pathway Involving JNK

“…Interestingly, ITSN expression is elevated in the brains of Down syndrome patients, consistent with the localization of ITSN to the Down syndrome region of chromosome 21 (43). Given the increased incidence of seizure activity in Down syndrome patients (44), elevated ITSN levels may lead to elevated JNK activity resulting in an increase in neuronal apoptosis following seizures thereby contributing to increased neurodegeneration and cognitive impairment associated with this syndrome.…”