List of Publications

2024

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. Matthews E, Whittle EF, Khan F, McEntagart M, Carroll CJ. J Hum Genet. 2024 Feb 19. doi: 10.1038/s10038-024-01226-9. Online ahead of print.

Crossover randomized controlled trial of bumetanide to rescue an attack of exercise induced hand weakness in hypokalaemic periodic paralysis. Scalco RS, Morrow JM, Manole A, Skorupinska I, Ricciardi F, Matthews E, Hanna MG, Fialho D. Neuromuscul Disord. 2024 Jan 3;35:33-38. doi: 10.1016/j.nmd.2023.12.015.

2023

Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation. Vivekanandam V, Seutterlin K, Matthews E, Thornton J, Jayaseelan D, Shah S, Morrow JM, Yousry T, Hanna MG. Muscle Nerve. 2023 Oct;68(4):439-450. doi: 10.1002/mus.27947.

Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies. Matthews E, Palace J, Ramdas S, Sansone V, Tristani-Firouzi M, Vicart S, Willis T. Pediatr Neurol. 2023 Aug;145:102-111. doi: 10.1016/j.pediatrneurol.2023.05.012

268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials. Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants. Neuromuscul Disord. 2023 May;33(5):447-462. doi: 10.1016/j.nmd.2023.04.005

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Themistocleous AC, Baskozos G, Blesneac I, Comini M, Megy K, Chong S, Deevi SVV, Ginsberg L, Gosal D, Hadden RDM, Horvath R, Mahdi-Rogers M, Manzur A, Mapeta R, Marshall A, Matthews E, McCarthy MI, Reilly MM, Renton T, Rice ASC, Vale TA, van Zuydam N, Walker SM, Woods CG, Bennett DLH. Brain Commun. 2023 Feb 20;5(2):fcad037

2022

Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice. Bugiardini E, Nunes AM, Oliveira-Santos A, Dagda M, Fontelonga TM, Barraza-Flores P, Pittman AM, Morrow JM, Parton M, Houlden H, Elliott PM, Syrris P, Maas RP, Akhtar MM, Küsters B, Raaphorst J, Schouten M, Kamsteeg EJ, van Engelen B, Hanna MG, Phadke R, Lopes LR, Matthews E, Burkin DJ. J Am Heart Assoc. 2022 Dec 6;11(23):e026494. doi: 10.1161/JAHA.122.026494.

Refocusing SIDS research: Is butylcholinesterase a predictive biomarker? Matthews E. EBioMedicine. 2022 Jun 18;81:104104.

Gene variant effects across sodium channelopathies predict function and guide precision therapy. A Brunklaus, T Feng, T Brünger, E Perez-Palma, H Heyne, E Matthews, C Semsarian, JD Symonds, SM Zuberi, DLal, S Schorge. Brain. 2022 Dec 19;145(12):4275-4286. doi: 10.1093/brain/awac006

Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy. Silksmith B, Munot P, Starling L, Pujar S, Matthews E. Lancet Child Adolesc Health. 2022 Jul;6(7):495-508. doi: 10.1016/S2352-4642(22)00091-8.

Refocusing SIDS research: Is butylcholinesterase a predictive biomarker? Matthews E. EBioMedicine. 2022 Jun 18;81:104104. doi: 10.1016/j.ebiom.2022.104104. Online ahead of print.

Excitabiltiy properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles. Suetterlin KJ, Männikkö R, Matthews E, Greensmith L, Hanna MG, Bostock H, Tan SV.Neuromuscul Disord. 2022 Apr;32(4):347-357. doi: 10.1016/j.nmd.2022.02.011.

Gene variant effects across sodium channelopathies predict function and guide precision therapy. A Brunklaus, T Feng, T Brünger, E Perez-Palma, H Heyne, E Matthews, C Semsarian, JD Symonds, SM Zuberi, DLal, S Schorge. Brain 2022 Jan 17;awac006. doi: 10.1093/brain/awac006. Online ahead of print

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity. Vivekanandam V, Männikkö R, Skorupinska I, Germain L, Gray B, Wedderburn S, Kozyra D, Sud R, James N, Holmes S, Savvatis K, Fialho D, Merve A, Pattni J, Farrugia M, Behr ER, Marini-Bettolo C, Hanna MG, Matthews E. Brain. 2022 Jun 30;145(6):2108-2120. doi: 10.1093/brain/awab445

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R. Brain. 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344

2021

The long exercise test as a functional marker of periodic paralysis. Ribeiro A, Suetterlin KJ, Skorupinska I, Tan SV, Morrow JM, Matthews E, Hanna MG, Fialho D. Muscle Nerve. 2021 Nov 24. Online ahead of print.

Ageing contributes to phenotype transition in a mouse model of periodic paralysis. Karen J. Suetterlin, S. Veronica Tan, Roope Mannikko, Rahul Phadke, Michael Orford, Simon Eaton, Avan A. Sayer, Miranda D. Grounds, Emma Matthews, Linda Greensmith, Michael G. Hanna. JCSM Rapid Communications. 05 May 2021. doi.org/10.1002/rco2.41

Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies. Sewry CA, Feng L, Chambers D, Matthews E, Phadke R. Neuromuscul Disord. 2021 May;31(5):371-384. doi: 10.1016/j.nmd.2021.02.007

Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations. Sun J, Luo S, Suetterlin KJ, Song J, Huang J, Zhu W, Xi J, Zhou L, Lu J, Lu J, Zhao C, Hanna MG, Männikkö R, Matthews E, Qiao K. Neuromuscul Disord. 2021 Apr 15:S0960-8966(21)00097-3. doi: 10.1016/j.nmd.2021.03.014

Long-term Safety and Efficacy of Mexiletine in Myotonic Dystrophy Types 1 and 2. Christina Mousele, Emma Matthews, Robert Pitceathly, Michael Hanna, Susan McDonald, Konstantinos Savvatis, Aisling Carr, Christopher Turner. Neurology: Clinical Practice. 2021/3/24

Making sense of missense variants in TTN-related congenital myopathies. Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0

Skeletal muscle channelopathies: a guide to diagnosis and management. Matthews E, Holmes S, Fialho D. Pract Neurol. 2021 Feb 9: doi: 10.1136/practneurol-2020-002576

Andersen-Tawil Syndrome Presenting with Complete Heart Block. Suetterlin K, Männikkö R, Flossmann E, Sud R, Fialho D, Vivekanandam V, James N, Gossios TD, Hanna MG, Savvatis K, Matthews E. J Neuromuscul Dis. 2021;8(1):151-154. doi: 10.3233/JND-200572

2020 and beyond

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims. Clemens DJ, Gray B, Bagnall RD, Tester DJ, Giudicessi JR, Maleszewski JJ, Crotti L, Schwartz PJ, Matthews E, Semsarian C, Behr ER, Ackerman MJ. Circ Genom Precis Med. 2020 Dec;13(6):e003032. doi: 10.1161/CIRCGEN.120.003032

Guidelines on clinical presentation and management of nondystrophic myotonias. Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Muscle Nerve. 2020 Oct;62(4):430-444. doi:10.1002/mus.26887.

Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome. Echaniz-Laguna A, Biancalana V, Nadaj-Pakleza A, Fournier E, Matthews E, Hanna MG, Männikkö R. J Neurol Neurosurg Psychiatry. 2020 Aug;91(8):898-900. doi: 10.1136/jnnp-2020-323173.

Treatment Updates for Neuromuscular Channelopathies. Jitpimolmard N, Matthews E, Fialho D. Curr Treat Options Neurol. 2020;22(10):34. doi: 10.1007/s11940-020-00644-2

Skeletal Muscle Channelopathies. Vivekanandam V, Munot P, Hanna MG, Matthews E. Neurol Clin. 2020 Aug;38(3):481-491. doi: 10.1016/j.ncl.2020.04.003.

Improving genetic diagnostics of skeletal muscle channelopathies. Vivekanandam V, Männikkö R, Matthews E, Hanna MG. Expert Rev Mol Diagn. 2020 Jul;20(7):725-736. doi:10.1080/14737159.2020.1782195

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events. Cea G, Andreu D, Fletcher E, Ramdas S, Sud R, Hanna MG, Matthews E. Wellcome Open Res. 2020 May 12;5:57. doi: 10.12688/wellcomeopenres.15798.2

Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches, Emma Matthews, Simona Balestrini, Prof Sanjay M Sisodiya, Michael G Hanna, FMedSci, March 03, 2020 DOI:https://doi.org/10.1016/S2352-4642(19)30425-0

Mexiletine (NaMuscla) for the treatment of myotonia in non-dystrophic myotonic disorders. KJ Suetterlin, D Raja Rayan, E Matthews, MG Hanna. Expert Opinion on Orphan Drugs 8 (2-3), 43-49. 2020/3/3

Triadin Knockout Syndrome is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and is Extremely Rare in the General Population. Clemens, D; Gray, B; Bagnall, R; Tester, D; Dotzler, S; Giudicessi, J; Matthews, E; Semsarian, C; Behr, E; Ackerman, M; (2020) Circulation: Genomic and Precision Medicine in press

In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis. Veronica Tan S, Suetterlin K, Männikkö R, Matthews E, Hanna MG, Bostock H. Clin Neurophysiol. 2020 Jan 27;131(4):816-827. doi: 10.1016/j.clinph.2019.12.414.

Annual renal ultrasound may prevent acute presentation with acetazolamide-associated urolithiasis. Suetterlin K, Vivekanandam V, James N, Sud R, Holmes S, Fialho D, Hanna M.G, and Matthews E. Neurology: Clinical Practice October 2019 vol. 00 no. 00 1-3 doi:10.1212/CPJ.0000000000000761

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation. Thor MG, Vivekanandam V, Sampedro-Castañeda M, Tan SV, Suetterlin K, Sud R, Durran S, Schorge S, Kullmann DM, Hanna MG, Matthews E, Männikkö R. Sci Rep. 2019 Nov 26;9(1):17560. doi: 10.1038/s41598-019-54041-0.

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre. Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG. Neuromuscul Disord. 2019 Aug 19. pii: S0960-8966(19)31077-6. doi: 10.1016/j.nmd.2019.08.003.

Possible role of SCN4A skeletal muscle mutation in apnea during seizure. Türkdoğan D, Matthews E, Usluer S, Gündoğdu A, Uluç K, Mannikko R, Hanna MG, Sisodiya SM, Çağlayan HS. Epilepsia Open. 2019 Jul 1;4(3):498-503. doi: 10.1002/epi4.12347

National registry for sudden unexpected deaths of infants and children in England: why do we need one and do families want one? Matthews E, Blair P, Sisodiya S, Jones S, Sebire N, Behr E, Fleming P.Arch Dis Child. 2019 Apr 20. pii: archdischild-2018-316542. doi: 10.1136/archdischild-2018-316542.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F Treves S. Hum Mutat. 2019 Apr 1. doi: 10.1002/humu.23745.

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials. Stunnenberg BC, Raaphorst J, Groenewoud HM, Statland JM, Griggs RC, Woertman W, Stegeman DF, Timmermans J, Trivedi J, Matthews E, Saris CGJ, Schouwenberg BJ, Drost G, van Engelen BGM, van der Wilt GJ. JAMA. 2018 Dec 11;320(22):2344-2353. doi: 10.1001/jama.2018.18020. PMID: 30535218

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, Matthews E. Brain. 2018 Dec 1;141(12):3308-3318. doi: 10.1093/brain/awy283. PMID: 30423015

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies. Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA. Front Neurol. 2018 Jun 26;9:456. doi: 10.3389/fneur.2018.00456. PMID: 29997562

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4. Luo S, Sampedro Castañeda M, Matthews E, Sud R, Hanna MG, Sun J, Song J, Lu J, Qiao K, Zhao C, Männikkö R. Sci Rep. 2018 Jun 26;8(1):9714. doi: 10.1038/s41598-018-27822-2. PMID:29946067

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF. Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. PMID: 29935101

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy. Matthews E, Hartley L, Sud R, Hanna MG, Muntoni F, Munot P. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):243-245. doi: 10.1136/jnnp-2017-317849. PMID: 29769250

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E. Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. PMID: 29605429

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1230-1232. doi: 10.1136/jnnp-2017-317581. PMID: 29472272

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG. Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. PMID: 29298851

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E. Neurol Genet. 2017 Jul 6;3(4):e168. doi: 10.1212/NXG.0000000000000168. PMID: 28702508

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms. Matthews E, Silwal A, Sud R, Hanna MG, Manzur AY, Muntoni F, Munot P. J Pediatr. 2017 Sep;188:181-185.e6. doi: 10.1016/j.jpeds.2017.05.081. PMID: 28662944

Dichlorphenamide efficacy in the primary periodic paralyses. E. Matthews & M. G. Hanna (2017) Expert Opinion on Orphan Drugs, 5:3, 285-290, DOI:10.1080/21678707.2017.1283216

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. PMID: 28012042

Corticosteroids for the treatment of Duchenne muscular dystrophy. Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Cochrane Database Syst Rev. 2016 May 5;(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. Review. PMID: 27149418

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. PMID:

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies. Suetterlin KJ, Bugiardini E, Kaski JP, Morrow JM, Matthews E, Hanna MG, Fialho D. JAMA Neurol. 2015 Dec;72(12):1531-3. doi: 10.1001/jamaneurol.2015.2338. PMID:26658970

Repurposing of sodium channel antagonists as potential new anti-myotonic drugs. Matthews E, Hanna MG. Exp Neurol. 2014 Nov;261:812-5. doi: 10.1016/j.expneurol.2014.09.003. PMID: 25218042

Innovative care model for patients with complex muscle diseases. Quinlivan R, Matthews E, Hanna MG. Curr Opin Neurol. 2014 Oct;27(5):607-13. doi: 10.1097/WCO.0000000000000132. PMID: 25188015

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. Morrow JM, Matthews E, Raja Rayan DL, Fischmann A, Sinclair CD, Reilly MM, Thornton JS, Hanna MG, Yousry TA. Neuromuscul Disord. 2013 Aug;23(8):637-46. doi: 10.1016/j.nmd.2013.05.001. PMID: 23810313

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium. Brain. 2013 Jul;136(Pt 7):2189-200. doi: 10.1093/brain/awt133. PMID: 23771340

Prevalence study of genetically defined skeletal muscle channelopathies in England. Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG. Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. PMID: 23516313

Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. Statland JM, Bundy BN, Wang Y, Rayan DR, Trivedi JR, Sansone VA, Salajegheh MK, Venance SL, Ciafaloni E, Matthews E, Meola G, Herbelin L, Griggs RC, Barohn RJ, Hanna MG; Consortium for Clinical Investigation of Neurologic Channelopathies. JAMA. 2012 Oct 3;308(13):1357-65. doi: 10.1001/jama.2012.12607. PMID: 23032552

A quantitative measure of handgrip myotonia in non-dystrophic myotonia. Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium. Muscle Nerve. 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402. PMID: 22987687

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG. Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. PMID: 22649220

A case of necrotizing myopathy with proximal weakness and cardiomyopathy. Matthews E, Plotz PH, Portaro S, Parton M, Elliott P, Humbel RL, Holton JL, Keegan BM, Hanna MG. Neurology. 2012 May 8;78(19):1527-32. doi: 10.1212/WNL.0b013e3182553baa. PMID: 22565568

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. Matthews E, Portaro S, Ke Q, Sud R, Haworth A, Davis MB, Griggs RC, Hanna MG. Neurology. 2011 Nov 29;77(22):1960-4. doi: 10.1212/WNL.0b013e31823a0cb6. PMID: 22094484

Sodium and chloride channelopathies with myositis: coincidence or connection? Matthews E, Miller JA, MacLeod MR, Ironside J, Ambler G, Labrum R, Sud R, Holton JL, Hanna MG. Muscle Nerve. 2011 Aug;44(2):283-8. doi: 10.1002/mus.22120. PMID: 21698652

An interactive voice response diary for patients with non-dystrophic myotonia. Statland JM, Wang Y, Richesson R, Bundy B, Herbelin L, Gomes J, Trivedi J, Venance S, Amato A, Hanna M, Griggs R, Barohn RJ; Cinch Consortium. Muscle Nerve. 2011 Jul;44(1):30-5. doi: 10.1002/mus.22007. PMID: 21674518

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. Tan SV, Matthews E, Barber M, Burge JA, Rajakulendran S, Fialho D, Sud R, Haworth A, Koltzenburg M, Hanna MG. Ann Neurol. 2011 Feb;69(2):328-40. doi: 10.1002/ana.22238. PMID: 21387378

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy. Matthews E, Manzur AY, Sud R, Muntoni F, Hanna MG. Arch Neurol. 2011 Jan;68(1):127-9. doi: 10.1001/archneurol.2010.347. PMID: 21220685

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E. Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. PMID: 21130652

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis? Matthews E, Hanna MG. J Physiol. 2010 Jun 1;588(Pt 11):1879-86. doi: 10.1113/jphysiol.2009.186627. Review. PMID:20123788

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H. Neuromuscul Disord. 2010 Mar;20(3):166-73. doi: 10.1016/j.nmd.2009.12.005. PMID: 20080402

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG; CINCH Investigators. Brain. 2010 Jan;133(Pt 1):9-22. doi: 10.1093/brain/awp294. Epub 2009 Nov 16. Review. PMID: 19917643

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A Rajakulendran S, Tan SV, Matthews E, Tomlinson SE, Labrum R, Sud R, Kullmann DM, Schorge S, Hanna MG. Neurology. 2009 Sep 22;73(12):993-5. doi: 10.1212/WNL.0b013e3181b87959. PMID: 19770477

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG. Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. PMID: 19118277

Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype. Matthews E, Guet A, Mayer M, Vicart S, Pemble S, Sternberg D, Fontaine B, Hanna MG. Neurology. 2008 Nov 18;71(21):1740-2. doi: 10.1212/01.wnl.0000335269.21550.0e. PMID: 19015492

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. Matthews E, Tan SV, Fialho D, Sweeney MG, Sud R, Haworth A, Stanley E, Cea G, Davis MB, Hanna MG. Neurology. 2008 Jan 1;70(1):50-3. doi: 10.1212/01.wnl.0000287069.21162.94. PMID: 18166706

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias. Ryan AM, Matthews E, Hanna MG. Curr Opin Neurol. 2007 Oct;20(5):558-63. Review. PMID: 17885445

Book Chapters

Periodic paralysis. Fialho, D., Griggs, R., Matthews, E.L. (2018). In Handbook of Clinical Neurology. Elsevier.

Cav1.1 Channel and hypokalemic periodic paralysis. Matthews, E., Hanna, M.G. (2014). In Pathologies of Calcium Channels. (pp. 135-149).

Skeletal muscle channelopathies. Matthews, E.L., Hanna, M. (2014). In Oxford Textbook of Neuromuscular Disorders. Oxford University Press, USA.