De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Psychosis and Schizophrenia

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

Mol Psychiatry.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA

doi: 10.1038/s41380-018-0103-8.

Functional monoamine oxidase B gene intron 13 polymorphism predicts putaminal dopamine turnover in de novo Parkinson's disease

Mov Disord.

Löhle M, Mangone G, Wolz M, Beuthien-Baumann B, Oehme L, van den Hoff J, Kotzerke J, Reichmann H, Corvol JC, Storch A

doi: 10.1002/mds.27466.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

JAMA Neurol.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A

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Further Publications Neurology

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Lancet Neurol

Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR

doi: 10.1016/S1474-4422(21)00001-6

Epilepsy

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

JAMA Neurol.

de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BP

doi: 10.1001/

Alzheimer’s Disease

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

JAMA Neurol.

Kunkle BW, Vardarajan BN, Naj AC, Whitehead PL, Rolati S, Slifer S, Carney RM, Cuccaro ML, Vance JM, Gilbert JR, Wang LS, Farrer LA, Reitz C, Haines JL, Beecham GW, Martin ER, Schellenberg GD, Mayeux RP, Pericak-Vance MA

doi: 10.1001/

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

N Engl J Med.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS

doi: 10.1056/NEJMoa1710504.

EpilepsyMultiple Sclerosis

De novo convulsive status epilepticus in patients with multiple sclerosis treated with dalfampridine

Mult Scler.

Panicucci E, Cohen M, Bourg V, Rocher F, Thomas P, Lebrun C

doi: 10.1177/1352458518790379.

Parkinson’s Disease

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

JAMA Neurol.

Montaut S, Tranchant C, Drouot N, Rudolf G, Guissart C, Tarabeux J, Stemmelen T, Velt A, Fourrage C, Nitschké P, Gerard B, Mandel JL, Koenig M, Chelly J, Anheim M; French Parkinson’s and Movement Disorders Consortium

doi: 10.1001/

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Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

Functional monoamine oxidase B gene intron 13 polymorphism predicts putaminal dopamine turnover in de novo Parkinson's disease

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

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