Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Corpus callosum and epilepsies.

Unterberger I, Bauer R, Walser G, Bauer G

Seizure 2016; (37()):55-60.

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.

Auer RN, Laganière JL, Robitaille YO, et al.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016; (29(9)):962-76 doi:10.1038/modpathol.2016.90.

KCC3 deficiency-induced disruption of paranodal loops and impairment of axonal excitability in the peripheral nervous system.

Sun YT, Tzeng SF, Lin TS, et al.

Neuroscience 2016; (335()):91-102.

An Overview of Congenital Myopathies.

Mah JK, Joseph JT

Continuum (Minneapolis, Minn.) 2016; (22(6, Muscle and Neuromuscular Junction Disorders)):1932-1953 doi:10.1212/CON.0000000000000404.

Respiratory illness in children with disability: a serious problem?

Proesmans M

Breathe (Sheffield, England) 2016; (12(4)):e97-e103 doi:10.1183/20734735.017416.

Phosphoregulation of K+ -Cl- cotransporters during cell swelling: Novel insights.

Frenette-Cotton R, Marcoux AA, Garneau AP, et al.

Journal of cellular physiology 2018; (233(1)):396-408 doi:10.1002/jcp.25899.

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.

Bowerman M, Salsac C, Bernard V, et al.

Neurobiology of disease 2017; (106()):35-48 doi:10.1016/j.nbd.2017.06.013.

Reversal of residual neuromuscular block: complications associated with perioperative management of muscle relaxation.

Hunter JM

British journal of anaesthesia 2017; (119(suppl_1)):i53-i62 doi:10.1093/bja/aex318.

A role for KCC3 in maintaining cell volume of peripheral nerve fibers.

Flores B, Schornak CC, Delpire E

Neurochemistry international 2019; (123()):114-124 doi:10.1016/j.neuint.2018.01.009.

Inhalational versus Intravenous Induction of Anesthesia in Children with a High Risk of Perioperative Respiratory Adverse Events: A Randomized Controlled Trial.

Ramgolam A, Hall GL, Zhang G, et al.

Anesthesiology 2018; (128(6)):1065-1074 doi:10.1097/ALN.0000000000002152.

Neuropathic Pain in Pediatric Oncology: A Clinical Decision Algorithm.

Anghelescu DL, Tesney JM

Paediatric drugs 2019; (21(2)):59-70 doi:10.1007/s40272-018-00324-4.

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.

Pacheva I, Todorov T, Halil Z, et al.

American journal of medical genetics. Part A 2019; (179(6)):1020-1024 doi:10.1002/ajmg.a.61110.

Nemaline myopathies: a current view.

Sewry CA, Laitila JM, Wallgren-Pettersson C

Journal of muscle research and cell motility 2019; (40(2)):111-126 doi:10.1007/s10974-019-09519-9.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Park J, Flores BR, Scherer K, et al.

Journal of medical genetics 2020; (57(4)):283-288 doi:10.1136/jmedgenet-2019-106273.

A Clinician's Approach to Peripheral Neuropathy.

Siao P, Kaku M

Seminars in neurology 2019; (39(5)):519-530 doi:10.1055/s-0039-1694747.

Osmotic Response of Dorsal Root Ganglion Neurons Expressing Wild-Type and Mutant KCC3 Transporters.

Flores B, Delpire E

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2020; (54(4)):577-590 doi:10.33594/000000241.

Recognizing Risks and Optimizing Perioperative Care to Reduce Respiratory Complications in the Pediatric Patient.

Egbuta C, Mason KP

Journal of clinical medicine 2020; (9(6)) doi:10.3390/jcm9061942.

Distal Myopathies.

Felice KJ

Neurologic clinics 2020; (38(3)):637-659 doi:10.1016/j.ncl.2020.03.007.

A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum.

Al Shibli N, Al-Maawali A, Elmanzalawy A, et al.

Journal of pediatric genetics 2020; (9(4)):293-295 doi:10.1055/s-0039-1700975.

Non-invasive Ventilation in Children With Neuromuscular Disease.

Fauroux B, Khirani S, Griffon L, et al.

Frontiers in pediatrics 2020; (8()):482 doi:10.3389/fped.2020.00482.

Respiratory management of children with spinal muscular atrophy (SMA).

Fauroux B, Griffon L, Amaddeo A, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020; (27(7S)):7S29-7S34 doi:10.1016/S0929-693X(20)30274-8.

Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.

Flores B, Delpire E

American journal of physiology. Cell physiology 2021; (320(5)):C722-C730 doi:10.1152/ajpcell.00594.2020.

Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Bchetnia M, Bouchard L, Mathieu J, et al.

Journal of medical genetics 2021; (58(10)):653-665 doi:10.1136/jmedgenet-2021-107809.

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy.

Bogdanova-Mihaylova P, McNamara P, Burton-Jones S, Murphy SM

BMJ case reports 2021; (14(10)) doi:10.1136/bcr-2021-244641.

Long-term follow-up in a cohort of children with isolated corpus callosum agenesis at fetal MRI.

Romaniello R, Arrigoni F, De Salvo P, et al.

Annals of clinical and translational neurology 2021; (8(12)):2280-2288 doi:10.1002/acn3.51484.

Neurogenic Dysphagia and Nutrition in Disorder of Consciousness: An Overview with Practical Advices on an "Old" but Still Actual Clinical Problem.

Raciti L, Raciti G, Pulejo G, et al.

Medicines (Basel, Switzerland) 2022; (9(2)) doi:10.3390/medicines9020016.

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.

Løseth S, Høyer H, Le KM, et al.

Brain : a journal of neurology 2023; (146(3)):912-922 doi:10.1093/brain/awac488.

Perioperative neuromuscular blockade. 2020 update of the SEDAR (Sociedad Española de Anestesiología y Reanimación) recommendations.

Díaz-Cambronero O, Serrano A, Abad-Gurumeta A, et al.

Revista espanola de anestesiologia y reanimacion 2023; (70(1)):37-50 doi:10.1016/j.redare.2022.02.005.

Respiratory Management of Patients With Neuromuscular Weakness: An American College of Chest Physicians Clinical Practice Guideline and Expert Panel Report.

Khan A, Frazer-Green L, Amin R, et al.

Chest 2023; (164(2)):394-413 doi:10.1016/j.chest.2023.03.011.

Understanding and managing respiratory infections in children and young adults with neurological impairment.

Proesmans M, Vermeulen F, Boon M

Expert review of respiratory medicine 2023; (17(3)):203-211 doi:10.1080/17476348.2023.2192483.

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Nguyen T, Heide S, Guilbaud L, et al.

Prenatal diagnosis 2023; (43(6)):746-755 doi:10.1002/pd.6382.

Demographic and clinical characteristics, seizure disorders, and antiepileptic drug usage in different types of corpus callosum disorders: a comparative study in children.

Fu RH, Wu PY, Chou IC, et al.

Italian journal of pediatrics 2024; (50(1)):20 doi:10.1186/s13052-024-01589-x.

Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling.

Wu FT, Chen CP

Journal of medical ultrasound 2024; (32(2)):99-103 doi:10.4103/jmu.jmu_49_23.

Neuromuscular Disorders in Pediatric Respiratory Disease.

Taylor JB, Ingram DG, Kupfer O, Amin R

Clinics in chest medicine 2024; (45(3)):729-747 doi:10.1016/j.ccm.2024.02.021.

A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy.

Ahmad SR, Hanafi S

Clinical genetics 2025; (108(2)):212-217 doi:10.1111/cge.14733.

Peering behind the Curtain of Electrodiagnostic Testing.

Hearn SL, Andrews CC, Chung KC

Plastic and reconstructive surgery 2025; (156(3)):428e-438e doi:10.1097/PRS.0000000000012087.

Pharmacotherapy and non-invasive neuromodulation for neuropathic pain: a systematic review and meta-analysis.

Soliman N, Moisset X, Ferraro MC, et al.

The Lancet. Neurology 2025; (24(5)):413-428 doi:10.1016/S1474-4422(25)00068-7.

Prognostic value of cough force measured by peak expiratory flow in a 4-year longitudinal cohort study of geriatric patients with oropharyngeal dysphagia.

Stoev K, Wirth R, Labeit B, et al.

Frontiers in aging 2025; (6()):1512813 doi:10.3389/fragi.2025.1512813.

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C, Grenier JC, Pelletier J, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.07.11.25331388.

Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.

Rosenfeld EB, Kasatkin N, Yu BL, et al.

Pregnancy (Hoboken, N.J.) 2026; (2(3)):e70280 doi:10.1002/pmf2.70280.

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well-Phenotyped International Cohort.

Dugoff L, Chandler N, Allen S, et al.

Prenatal diagnosis 2026; doi:10.1002/pd.70252.