{"id":17079,"date":"2020-01-28T13:21:24","date_gmt":"2020-01-28T13:21:24","guid":{"rendered":"https:\/\/mjn.cat\/?p=17079"},"modified":"2020-01-29T11:08:47","modified_gmt":"2020-01-29T11:08:47","slug":"scn8a-epileptic-encephalopathy","status":"publish","type":"post","link":"https:\/\/mjn.cat\/en\/epilepsy\/scn8a-epileptic-encephalopathy\/","title":{"rendered":"SCN8A epileptic encephalopathy"},"content":{"rendered":"[vc_row type=”in_container” full_screen_row_position=”middle” scene_position=”center” text_color=”dark” text_align=”left” overlay_strength=”0.3″ shape_divider_position=”bottom”][vc_column column_padding=”padding-5-percent” column_padding_position=”left-right” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/1″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][vc_row_inner column_margin=”default” text_align=”left”][vc_column_inner column_padding=”padding-10-percent” column_padding_position=”left-right” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/4″ column_border_width=”none” column_border_style=”solid”][\/vc_column_inner][vc_column_inner column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/2″ column_border_width=”none” column_border_style=”solid”][vc_column_text][\/vc_column_text][\/vc_column_inner][vc_column_inner column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/4″ column_border_width=”none” column_border_style=”solid”][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”in_container” full_screen_row_position=”middle” scene_position=”center” text_color=”dark” text_align=”left” overlay_strength=”0.3″ shape_divider_position=”bottom”][vc_column column_padding=”padding-5-percent” column_padding_position=”left-right” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/1″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][vc_row_inner column_margin=”default” text_align=”left”][vc_column_inner column_padding=”padding-5-percent” column_padding_position=”left-right” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/1″ column_border_width=”none” column_border_style=”solid”][vc_column_text]SCN8A epileptic encephalopathy is caused by a mutation of this gene. It is a very rare pathology, among other reasons, for being underdiagnosed. Different variants of SCN8A may be associated with a very broad phenotype spectrum; from patients with severe encephalopathy, with fully non-treatable epileptic seizures that begin in the first months of life, to cases of patients without epilepsy, although with behavioral disorders and cognitive deficits.<\/span>[\/vc_column_text][vc_column_text]\u201cThe Cute Syndrome Foundation\u201d is an American organization that works to give visibility to this genetic disorder, financing researchers to improve their understanding and for the development of treatments that enhance the quality of life of those affected. In fact, a clinical trial is already being developed by the company Xenon, with a drug designed for SCN8A patients.<\/span>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner equal_height=”yes” content_placement=”middle” column_margin=”default” text_align=”left”][vc_column_inner column_padding=”padding-5-percent” column_padding_position=”left-right” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”2\/3″ column_border_width=”none” column_border_style=”solid”][vc_column_text]But the United States is far away and here in Spain, we have just a few cases, only three. To join forces we have proposed to our friends from Portugal, who are also three families, to create a Facebook page where we are all identified. We want to gather the largest number of people affected. We must be interesting for pharmaceutical companies. First of all, we must know how many we are. And together be visible and thus attract to our country the clinical trials that are being carried out in others.<\/span>[\/vc_column_text][\/vc_column_inner][vc_column_inner column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/3″ column_border_width=”none” column_border_style=”solid”][split_line_heading]\n

It is a very rare pathology, among other reasons, for being underdiagnosed.<\/h3>\n[\/split_line_heading][\/vc_column_inner][\/vc_row_inner][vc_row_inner column_margin=”default” text_align=”left”][vc_column_inner column_padding=”padding-5-percent” column_padding_position=”left-right” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/1″ column_border_width=”none” column_border_style=”solid”][vc_column_text]Here the link to our Facebook page. We ask for maximum diffusion. We invite all those affected to join us. Thank you.<\/span>[\/vc_column_text][vc_column_text]Official Facebook Group of SCN8A Espa\u00f1a y Portugal<\/span><\/a>[\/vc_column_text][image_with_animation image_url=”17082″ alignment=”center” animation=”Fade In” border_radius=”none” box_shadow=”none” max_width=”100%”][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”in_container” full_screen_row_position=”middle” scene_position=”center” text_color=”dark” text_align=”left” top_padding=”3%” bottom_padding=”0″ overlay_strength=”0.3″ shape_divider_position=”bottom” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/1″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][vc_row_inner column_margin=”default” text_align=”center”][vc_column_inner column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1\/1″ column_border_width=”none” column_border_style=”solid”]
<\/i>Love<\/span>1<\/span><\/span><\/a> <\/i> <\/i>