This is SCN2A Famiglie in Rete, active on the national territory. On February 24, a free webinar aimed at specialists and families

“Davide is the third child, born at the end of a difficult pregnancy, which ended in a precipitous birth. The first months passed quietly, but I immediately sensed that something was wrong, it was not exactly like with the other two children, as if the usual mother-child understanding mechanisms were not being consolidated. I noticed little things, he didn’t smile, he didn’t follow the normal stages of development. Davide was born in May, at the end of August I was sure there was something. He burst into sudden crying, had difficulty sucking, there was no regularity of the sleep-wake rhythm, made careless movements, and so began our journey. First a neurological examination and then the diagnosis of psychomotor retardation. A devastating diagnosis in its vagueness.” Thus begins the story of Stefania Dantone, Davide’s mother and president of the newborn SCN2A Italia Famiglie in Rete association.

“After almost two years of total darkness, thanks to a geneticist who took our case to heart, we performed the exome analysis in Bergamo. In April of the following year, 2016, we got the actual diagnosis: de novo mutation of the SCN2A gene. A diagnosis generally associated with epileptic encephalopathy and autism spectrum syndrome,” Dantone continues. Davide never presented with epilepsy, but autistic traits and sleep disorders were now evident. The neurologist who told us the diagnosis was brutal. We certainly breathed a sigh of relief understanding that the mutation was de novo and that therefore for my other two sons, Marco and Matteo, there was no risk, they would have had a normal life. But that diagnosis left us even more speechless.”

SCN2A is the name of a gene encoding a part of the brain sodium channel located on chromosome 2 at position 24.3. This channel is an electrically activated “gateway” in the brain that allows sodium to enter/exit neurons affecting brain excitability. Mutations in the SCN2A gene can generate an increase or loss of function of the sodium channel and can be expressed in different clinical conditions. The two main clinical conditions linked to this rare condition are epilepsy and autism, whose institutional colors are respectively purple and blue. The 4 sub-units of the SCN2A sodium channel have a biochemical structure similar to a 4-petalled flower. All these aspects are collected in the logo of our association.”


“It took years before I got to found a real association. Initially I looked for information online and immediately we came across the American foundation, thanks to which we found a lot of information. I activated a social group, to track down Italian families who shared this diagnosis. I translated for them most of the materials written in English and with my husband Michele we started to participate in conferences, we were in New York and Seattle. We have started to actively collaborate with the US foundation and the Australian association. In 2018, thanks to a small grant from the SCN2A Foundation, we held the first conference for Italian families, in Padua. Then, thanks also to the current vice-president, Fabiana Novelli, we decided to move on to the next level: to equip ourselves with a scientific committee and found the Italian association, which today represents 22 families, but I am sure that the undiagnosed cases are many more“.

The genetic screening of epileptic encephalopathies and complex autism pictures is one of the main objectives of SCN2A Italia Famiglie in Rete APS, which is in fact the first European association to represent families with this rare condition. “The mission of the SCN2A Italia Famiglie in Rete Association is to be a point of reference for all families with this rare condition, to promote scientific research and a wide dissemination of information to improve the quality of life of people with this rare condition. One of our goals is to map Italian cases of SCN2A, but we also want to promote the possibility of genetic screening for all cases of epileptic encephalopathy without diagnosis. Experts argue that currently only 20-25% of SCN2A cases are diagnosed among children with a history of epileptic encephalopathy. Considering that the gene was discovered only a few years ago, the problem of underdiagnosis is obvious.”

“Our association today has a Scientific Committee, made up of experts belonging to the European EpiCARE network, specialized in the diagnosis and treatment of people with rare and complex epilepsies. The coordinating center of the Scientific Committee is the team of the Bambino Gesù Hospital, coordinated by Prof. Federico Vigevano“.


SCN2A is a rare disease in all respects, but it is also chronic and disabling. However, it is not foreseen – as rare epileptic encephalopathies are not – by the lists of the Ministry of Health that identify the pathologies for which exemption from the ticket is foreseen. 

“In fact, our children present various symptoms ranging from very serious disability to less dramatic situations, as certainly is that of Davide. Davide attends school, but must constantly undergo speech therapy, psychomotricity, occupational therapy. All this in Veneto is guaranteed to us, but we know that today the situation varies dramatically from region to region. The recognition of SCN2A as a rare disease is therefore fundamental – concludes Dantone – also in light of the provisions of the Consolidated Law on Rare Diseases, which has recently become law. In this regard, the association immediately joined the Rare and Complex Epilepsy Alliance, a network of 14 Italian associations that has among its objectives to increase social, political and medical awareness of rare and complex epilepsies, and the Rare Diseases Alliance (AMR), a Technical Table that brings together patients, technicians and the institutional world”.


The SCN2A gene is located on chromosome 2 at position 24.3, and codes for one of the four subunits that make up the cerebral sodium channels, hence the choice of February 24 for the international day dedicated to awareness in the SCN2A gene. 

The SCN2A Italia Famiglie in rete association, in collaboration with the Scientific Committee, promotes, on the occasion of the World Day on SCN2A awareness, an update meeting on the recent scientific evidence on the SCN2A gene, whose mutations are the cause of epilepsy and autism and neuro-developmental disorders. Various topics will be addressed in the webinar: from genetics to therapeutic and rehabilitative approaches, research perspectives in Italy and the comparison with Italian families with children and adults with SCN2A.

The webinar program and how to participate, absolutely free, are available .

Read also: “SCN2A, an epileptic encephalopathy certainly underdiagnosed


SCN2A Italia Famiglie in rete aps
Sede legale
via Palestro 43,
35138 - Padova [Italia]
Accoglienza Famiglie:
Elena Orlando: +39 347 2980516
Fabiana Novelli: +39 334 6552977
Stefania Dantone: +39 333 7240623