Researchers at Children's Hospital of Philadelphia (CHOP) have pinpointed variants in the WDR26 gene to a rare syndrome characterized by intellectual disability, seizures, an abnormal gait and distinctive facial features. In a study published in the American Journal of Human Genetics Deardorff, first author Cara M. Skraban, MD, also of CHOP, and co-authors from medical centers in six countries reported on 15 individuals now known to have this recognizable syndrome. Prior to this it was not even listed in some of the most commonly used databases.

The affected individuals ranged from two years old to 34 years old. All the patients had developmental delays (ranging from mild to severe), seizures, and similar facial features (such as wide mouths, prominent upper lip and gums, full cheeks and a broad nasal tip). Many had subtle abnormalities in their gait. All 15 had de novo (new) mutations - those arising in a single egg or sperm that developed into the affected patient, but did not occur in the patient's parents.

CHOP has started a patient registry to compile clinical data on this rare condition (see This email address is being protected from spambots. You need JavaScript enabled to view it.). The data collection may offer a resource for families interested in contacting each other to share information and support.

Source: WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features, Cara M. Skraban et al., American Journal of Human Genetics, doi: 10.1016/j.ajhg.2017.06.002, published 6 July 6 2017. 

It is a great pleasure to welcome you to submit proposals for symposia for the 15th International Child Neurology Congress that will take place in the enchanting city of Mumbai, India, November 15-18, 2018. The theme for the Congress is "Protecting the developing brain and preventing disability". The ACON is the local organizer and host of the Congress, in which Child Neurologists from all over the world will meet at the Grand Hyatt Hotel in downtown Mumbai. 

We invite you to submit proposals for Symposia. All proposals must be submitted through this website in the period from May 08, 2017 to September 30, 2017. Three to four symposia will be held concurrently each morning of the four day Congress. 

Each symposium will be 2 hours in duration and would be expected to have a total of 3-4 speakers drawn from diverse geographic origins. A symposium is meant to be a focused session on a common theme. The format usually involves introduction and background to the discussion by the symposium chair, followed by talks from participants. The viewpoints may differ and there would be interaction between audience and participants. The symposium would end with a summary overview of the session by the chair. Proposals are invited from a proposed Chair who will be the principal organiser of the symposium, and who may have one other international co-organiser. 

Chairs are encouraged to submit the overall proposal before September 30, 2017 to allow enough time for individual participants to complete their portion of the proposal once the initial proposal is accepted. The submitted symposia proposals will be evaluated by the SPC and the selected Symposia will be announced in December 2017. A list of possible topics can be seen here, which is not meant to be restrictive but is included to stimulate thinking about areas of great interest. 

The Program Committee includes distinguished representatives from ICNA (The International Child Neurology Association), AOCNA (Asian Oceanian Child Neurology Association) and AOCN (Association of Child Neurologists, India), and plans to develop a high quality scientific program for ICNC 2018 that reflects our organizations' global interests as well as the latest scientific and clinical advances in Child Neurology. 

We hope that you accept our invitation to submit a Symposium proposal to the SPC of the ICNC 2018. If you have any questions, please, do not hesitate to ask. 

We also seek your suggestions for topics and speakers for workshops and meet the expert sessions. Workshops involve a skill building session incorporating theoretical knowledge and practical approaches to further understanding and clinical skills in a particular area. Meet the expert sessions usually include 1 to 2 presenters who are chosen for their expertise in a particular area of interest. The sessions are for interaction between the presenters and the audience. Typically involves prolonged discussion on audience questions. 

Please send any suggestions you may have for workshops or meet the speaker sessions directly to me at any time.

Prof Lieven Lagae, ICNA Executive Board Member &  Director of the Childhood Epilepsy Program at the KUL University Hospitals is the recipient of "Cures within Research" 5th Annual Global Health Repurposing Awards. Prof Lagae has been awarded the new Industry Patient Impact Clinical Award.

Award recipients will be recognized at the Global Health Repurposing Awards on June 27, 2017 at the 6th Annual Global Health Drug Repositioning and Repurposing Conference in Chicago, IL.

We are very proud to acknowledge the achievements of our fellow ICNA Executive Board member, Dr. Lieven Lagae of KUL University Hospitals in Belgium, for his "Cures Within Reach Industry Patient Impact Clinical Award 2017" which has been given in recognition of his pioneering research and world-wide efforts to repurpose the drug fenfluramine for Dravet syndrome patients.

Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), it affects 1:15,700 individuals, 80% of whom have a mutation in their SCN1A gene.

Fenfluramine is an amphetamine-like drug that has been used in the past as a part of antiobesity treatments. Because of the possible cardiac adverse effects (valve thickening, pulmonary hypertension) associated with use of fenfluramine, it was withdrawn from the market in 2001. Dr. Lagae has doggedly fought to bring Dravet patients access to this drug, and is leading a worldwide effort to secure regulatory approval for fenfluramine so that it will help stop these debilitating seizures.

In Belgium, a Royal Decree permitted examination of the potential anticonvulsive effects of fenfluramine in a clinical trial consisting of a small group of patients diagnosed with Dravet syndrome.

The results of a prospective, open-label study by Prof Lage and colleagues assessing the safety and effectiveness of low-dose fenfluramine in a new cohort of Nine patients (aged 1.2-29.8 years) with Dravet syndrome has been recently published in the European Journal of Neurology in February 2017. In this study following a 3-month baseline period, fenfluramine was added to each patient's current antiepileptic drug regimen at a dose of 0.25-1.0 mg/kg/day (max. 20 mg/day) for a median duration of 1.5 (range, 0.3-5.1) years.

All patients demonstrated a reduction in seizure frequency during the treatment period with a median reduction of 75% (range, 28-100%). Seven patients (78%) experienced a ≥50% reduction in major motor seizure frequency. The most common adverse events were somnolence (n = 5) and anorexia (n = 4). No evidence of cardiac valvulopathy or pulmonary hypertension was observed.

The effectiveness and safety of low-dose fenfluramine as an add-on therapy for Dravet syndrome in this new prospective cohort supported previous findings by the same researchers in smaller observational studies.

Cures Within Reach

Cures Within Reach, is a leading global nonprofit focused on repurposing research as a fast track to saving patient lives. Cures Within Reach (http://www.cureswithinreach.org) works to catalyze repurposing research to quickly and affordably improve patient lives. We accomplish this by connecting funders with researchers to jumpstart repurposing research clinical trials, by providing collaboration tools so repurposing stakeholders can work together more easily, and by pioneering alternative finance engines and incentives for repurposing research. Cures Within Reach's repurposing research projects have generated over a dozen "new" treatments making patient impact through off-label use in clinical practice or through a commercialization track.

Further reading

Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients.Schoonjans A, Paelinck BP, Marchau F, Gunning B, Gammaitoni A, Galer BS, Lagae L, Ceulemans B.Eur J Neurol. 2017 Feb;24(2):309-314. doi: 10.1111/ene.13195.

Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine.Ceulemans B, Schoonjans AS, Marchau F, Paelinck BP, Lagae L.Epilepsia. 2016 Jul;57(7):e129-34. doi: 10.1111/epi.13407. Erratum in: Epilepsia. 2017 Mar;58(3):509-510.

Low-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndrome.Schoonjans AS, Lagae L, Ceulemans B.Ther Adv Neurol Disord. 2015 Nov;8(6):328-38. doi: 10.1177/1756285615607726.