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DTSTART:20190331T030000
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DTSTART:20191027T020000
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DTSTAMP:20260405T192602Z
UID:5d78c510072a3804361596@ist.ac.at
DTSTART:20190919T113000
DTEND:20190919T123000
DESCRIPTION:Speaker: Kevin Bender\nhosted by Peter Jonas\nAbstract: De novo
  mutations in the gene SCN2A are strongly associated with autism spectrum 
 disorder (ASD) and intellectual disability. The majority of ASD-associated
  SCN2A mutations are protein truncating variants\, resulting in loss-of-fu
 nction conditions where individuals have only one functional copy of SCN2A
  instead of the normal two. These conditions are also known as haploinsuff
 icient cases\, as the single functional allele cannot compensate for the l
 oss of the truncated allele. SCN2A encodes the protein NaV1.2\, a voltage-
 gated sodium channel that is expressed throughout the brain\, including ne
 ocortical excitatory neurons. Using a mouse model heterozygous for Scn2a\,
  we have explored how Scn2a haploinsufficiency affects neocortical circuit
 s. We found that NaV1.2 loss resulted in developmentally distinct deficits
  in neocortical excitatory neurons. Scn2a haploinsufficiency impaired acti
 on potential initiation early in development\, whereas a deficit in dendri
 tic excitability persistsed throughout life. These excitability deficits w
 ere associated with impaired excitatory synapses\, even when Scn2a is disr
 upted late in development. These findings suggest that NaV1.2 function is 
 critical throughout life\, raising the possibility that restoring normal N
 aV1.2 function\, even later in development\, may result in a therapeutic b
 enefit for individuals with ASD-associated SCN2A mutations. Work ongoing i
 n the lab is exploring if and when rescue of Scn2a must occur to achieve t
 herapeutic benefits.
LOCATION:Mondi Seminar Room 1\, Central Building\, ISTA
ORGANIZER:ekrallib@ist.ac.at
SUMMARY:Kevin Bender: SCN2A in neurodevelopmental disorders
URL:https://talks-calendar.ista.ac.at/events/2154
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