Libellas International Foundation is a nonprofit patient advocacy organization dedicated to improving the lives of children affected by NALCN ion channel-related diseases, through research, family support programs and education.
To provide support and funding for research focused on NALCN-related diseases.
To promote advocacy for families and patients with diseases related to the NALCN ion channel mutations.
To be a link between patients, doctors and researchers.
We aim to create an international network of patients, physicians and researchers who work together to transform the lives of those living with severe neurodevelopmental disorders induced by NALCN mutations.
ION CHANNELS: Ion channels are integral membrane proteins that allow specific ions to passively pass through lipid membranes following the electrochemical gradient for the permeant ions. They are crucial components of cellular excitabilitity and are involved in many human diseases.
NALCN Syndromes are very severe neurodevelopmental disorders that begins in infancy
IHPRF type 1 and type 2. Recessive pathogenic variants of NALCN and Unc80, its ancillary subunit, are linked to a syndrome referred to as infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) type 1 (OMIM #615419); and type 2 (OMIM #616801), respectively.
CLIFAHDD Dominant pathogenic variants of NALCN are responsible for a syndrome referred to as congenital contractures of limbs and face, hypotonia and developmental delay (CLIFAHDD; OMIM #616266).