Inter-ERN Molecular Therapeutic Board in Neurological Channelopathies

9 April 2024

The “Inter-ERN Molecular Therapeutic Board in Neurological Channelopathies” represents an inter-ERN initiative, bringing together expertise from across the European Reference Networks (ERNs) dedicated to rare neurological (ERN-RND), neuromuscular (ERN EURO-NMD) and rare and complex epileptic diseases (Epicare).

Designed to foster innovation and facilitate the exchange of knowledge, the Inter-ERN Board convenes regularly to discuss clinical cases of channelopathies that exhibit epileptic, neurological, or neuromuscular manifestations. These meetings serve as a dynamic forum where specialists from various disciplines contribute their insights, enhancing the depth and breadth of the discussions and eventually suggesting therapeutic options.

To encourage broad participation, all clinicians are invited to submit cases for consideration through an accessible online form (link available below). This inclusive approach ensures a wide variety of cases are presented, providing ample opportunities for learning and collaboration among the experts involved.

The Inter-ERN working group is led by Prof. Dr Holger Lerche from Universitätsklinikum Tübingen, assisted by Dr Robert Lauerer-Braun, as a representation of the Epicare ERN. EURO-NMD is represented by Prof Bertrand Fontaine, Dr Savine Vicart (APHP Pitié Salpêtrière, AIM, INSERM and Sorbonne University, Paris, France), Prof Jean-Françoes Desaphy (Bari University, Italy), Dr Lorenzo Maggi (Istituto Neurologico Carlo Besta, Milano, Italy) and by the EURO-NMD clinical advisor Dr António Atalaia.

Helpdesk Support

Please contact helpdesk@epi-care.eu

Propose cases for discussion: please fill the form

References

Muscle Channelopathies

– Altamura C, Saltarella I, Campanale C, Laghetti P, Desaphy JF. Drug repurposing in skeletal muscle ion channelopathies. Curr Opin Pharmacol. 2023 Feb;68:102329. doi: 10.1016/j.coph.2022.102329.

– Desaphy JF, Altamura C, Vicart S, Fontaine B. Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine. J Neuromuscul Dis. 2021;8(3):357-381. doi: 10.3233/JND-200582.

– Maggi L, Bonanno S, Altamura C, Desaphy JF. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells. 2021 Jun 16;10(6):1521. doi: 10.3390/cells10061521.

– Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, et al. Review of the Diagnosis and Treatment of Periodic Paralysis. Muscle Nerve. 2018;57(4):522-30.

– Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, et al. Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle Nerve. 2020;62(4):430-44.

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Propose a case for discussion in one of the meetings