WELCOME TO fundación LIBELLAS
ABOUT US
Fundación Libellas is an international, 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.
OUR GOALS
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.
NALCN SYNDROMES
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 is a highly conserved ion channel across species and is involved in cell excitability of neurons. Mutations of NALCN are involved in ultra-rare and severe genetic diseases.
The brain uses electrical signals to control essentially every aspect of our life: from breathing and walking to speaking and intellectual reasoning.
NALCN channel, predominantly expressed in neurons, regulates the resting membrane potential and neuronal excitability.
In children, both recessive and dominant mutations of NALCN and UNC80, its ancillary subunit, were recently described as causing severe neurodevelopmental disorders with an onset soon after birth referred to as IHPRF1/2 and CLIFAHDD. In both syndromes, patients exhibit a large panel of symptoms including hypotonia, facial dysmorphism, global developmental delay, constipation, respiratory defects, sleep disturbance, epileptic seizures and in some cases early death.
NALCN Syndromes are very severe neurodevelopmental disorders that begins in infancy
- IHPRF. Recessive pathogenic variants of gene NALCN and gene 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).
Possible implications of nalcn in other diseases
-
NALCN Cervical dystonia, Schizophrenia, Bipolar disorders, Epilepsy, Attention-deficit/Hyperactive disorder; Autism; 13q Syndrome, Alzheimer disease, Alcoholism, Restless leg syndrome, Primary biliary cirrhosis, cancer…
HOPE
There are no available treatments for patients to date. Children with NALCN ion channel-related diseases have no effective treatments options.
Foster Research on NALCN-related diseases is our hope for a cure. Join and help us accelerate our objectives.
ASSOCIATE MEMBER
Previous
Next
