|Synapse: #2 = synaptic vesicle|
Better-documented progress deciphering the epilepsy-autism connection was published online in Human Molecular Genetics this week. A team led by Patrick Cossette, a neurologist at the Université de Montréal, has pinpointed a mutation of the synapsin gene--SYN1--that can lead to both epilepsy and autism by deregulating the function of synapses. The synapsin gene plays a key role in forming the membrane that surrounds neurotransmitters before they make their way to a neuron's synapse, where they influence neighboring neurons. These membranes, also known as synaptic vesicles, regulate how and when neurotransmitters are released. The team discovered the gene while studying one large French-Canadian family all of whom have epilepsy and many of whom also suffer from autism.
For more on epilepsy's comorbidities, including autism, see my article "Epilepsy as a Spectrum Disorder" in EpilepsyUSA.