Mutations in the protocadherin-19(PCDH19)gene(Xq22.1)cause the X-linked syndrome known as developmental and epileptic encephalopathy 9(DEE9,OMIM#300088)(Dibbens et al.,2008).DEE9 is characterized by early-onset cluste...Mutations in the protocadherin-19(PCDH19)gene(Xq22.1)cause the X-linked syndrome known as developmental and epileptic encephalopathy 9(DEE9,OMIM#300088)(Dibbens et al.,2008).DEE9 is characterized by early-onset clustering epilepsy associated with intellectual disability ranging from mild to profound,autism spectrum disorder,and other neuropsychiatric features including schizophrenia,anxiety,attentiondeficit/hyperactivity,and obsessive or aggressive behaviors.While seizures may become less frequent in adolescence,psychiatric comorbidities persist and often worsen with age(Dibbens et al.,2008;Kolc et al.,2020).展开更多
Developmental and epileptic encephalopathy 9(DEE9):The gene PCDH19(Xq22.1),which encodes the calcium-dependent cell adhesion protein protocadherin-19(PCDH19),is nowadays considered as one of the most important genes i...Developmental and epileptic encephalopathy 9(DEE9):The gene PCDH19(Xq22.1),which encodes the calcium-dependent cell adhesion protein protocadherin-19(PCDH19),is nowadays considered as one of the most important genes in monogenic epilepsy(Depienne and LeGuern,2012).Mutations in PCDH19 are responsible for DEE9(OMIM#300088),a severe neurodevelopmental disorder characterized by early-onset clustering epilepsy,various degrees of cognitive impairment and neuro psychiatric comorbidities,like autism spectrum disorder(ASD)and behavioural problems.DEE9 patients start suffering from seizures around the age of 10 months until adolescence,when seizures tend to reduce or even disappear,while the psychiatric symptoms persist(Depienne and LeGuern,2012;Kolc et al.,2018).展开更多
基金supported by a grant from Telethon Foundation(grant No.GGP20056 to SB)The generation of Pcdh19 floxed mouse model was funded by Cariplo Foundation(grant No.2014-0972 to SB)。
文摘Mutations in the protocadherin-19(PCDH19)gene(Xq22.1)cause the X-linked syndrome known as developmental and epileptic encephalopathy 9(DEE9,OMIM#300088)(Dibbens et al.,2008).DEE9 is characterized by early-onset clustering epilepsy associated with intellectual disability ranging from mild to profound,autism spectrum disorder,and other neuropsychiatric features including schizophrenia,anxiety,attentiondeficit/hyperactivity,and obsessive or aggressive behaviors.While seizures may become less frequent in adolescence,psychiatric comorbidities persist and often worsen with age(Dibbens et al.,2008;Kolc et al.,2020).
基金supported by Fondazione Telethon–Italy(grant No.GGP17260 to Bassani S)。
文摘Developmental and epileptic encephalopathy 9(DEE9):The gene PCDH19(Xq22.1),which encodes the calcium-dependent cell adhesion protein protocadherin-19(PCDH19),is nowadays considered as one of the most important genes in monogenic epilepsy(Depienne and LeGuern,2012).Mutations in PCDH19 are responsible for DEE9(OMIM#300088),a severe neurodevelopmental disorder characterized by early-onset clustering epilepsy,various degrees of cognitive impairment and neuro psychiatric comorbidities,like autism spectrum disorder(ASD)and behavioural problems.DEE9 patients start suffering from seizures around the age of 10 months until adolescence,when seizures tend to reduce or even disappear,while the psychiatric symptoms persist(Depienne and LeGuern,2012;Kolc et al.,2018).
