Research & Literature

A definition and classification of status epilepticus--Report of the ILAE Task Force on Classification of Status Epilepticus.

Trinka E, Cock H, Hesdorffer D, et al.

Epilepsia 2015; (56(10)):1515-23 doi:10.1111/epi.13121.

Drop attacks, falls and atonic seizures in the Video-EEG monitoring unit.

Baraldi S, Farrell F, Benson J, et al.

Seizure 2015; (32()):4-8.

Presynaptic BK channels control transmitter release: physiological relevance and potential therapeutic implications.

Griguoli M, Sgritta M, Cherubini E

The Journal of physiology 2016; (594(13)):3489-500 doi:10.1113/JP271841.

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

Szczepanik E, Terczyńska I, Kruk M, et al.

Developmental period medicine 2015; (19(4)):454-63.

Nonepileptic seizures: an updated review.

Perez DL, LaFrance WC

CNS spectrums 2016; (21(3)):239-46 doi:10.1017/S109285291600002X.

Phenotypic insights into ADCY5-associated disease.

Chang FC, Westenberger A, Dale RC, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(7)):1033-40 doi:10.1002/mds.26598.

BK Channels in the Central Nervous System.

Contet C, Goulding SP, Kuljis DA, Barth AL

International review of neurobiology 2016; (128()):281-342.

Status Epilepticus: Epidemiology and Public Health Needs.

Sánchez S, Rincon F

Journal of clinical medicine 2016; (5(8)).

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.

Tabarki B, AlMajhad N, AlHashem A, et al.

Human genetics 2016; (135(11)):1295-1298 doi:10.1007/s00439-016-1726-y.

Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.

Andrade DM, Bassett AS, Bercovici E, et al.

Epilepsia 2017; (58(9)):1502-1517 doi:10.1111/epi.13832.

Seizure outcome after corpus callosotomy in a large paediatric series.

Graham D, Gill D, Dale RC, et al.

Developmental medicine and child neurology 2018; (60(2)):199-206 doi:10.1111/dmcn.13592.

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.

Dunn P, Albury CL, Maksemous N, et al.

Frontiers in genetics 2018; (9()):20 doi:10.3389/fgene.2018.00020.

What factors must be considered in 'return to school' following concussion and what strategies or accommodations should be followed? A systematic review.

Purcell LK, Davis GA, Gioia GA

British journal of sports medicine 2019; (53(4)):250 doi:10.1136/bjsports-2017-097853.

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.

Lindy AS, Stosser MB, Butler E, et al.

Epilepsia 2018; (59(5)):1062-1071 doi:10.1111/epi.14074.

Towards acute pediatric status epilepticus intervention teams: Do we need "Seizure Codes"?

Stredny CM, Abend NS, Loddenkemper T

Seizure 2018; (58()):133-140 doi:10.1016/j.seizure.2018.04.011.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

Epilepsy in adults.

Thijs RD, Surges R, O'Brien TJ, Sander JW

Lancet (London, England) 2019; (393(10172)):689-701 doi:10.1016/S0140-6736(18)32596-0.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

Liang L, Li X, Moutton S, et al.

Human molecular genetics 2019; (28(17)):2937-2951 doi:10.1093/hmg/ddz117.

Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel properties.

Moldenhauer HJ, Matychak KK, Meredith AL

Journal of neurophysiology 2020; (123(2)):560-570 doi:10.1152/jn.00626.2019.

Distinguishing psychogenic nonepileptic, mixed, and epileptic seizures using systemic measures and reported experiences.

Deli A, Huang YG, Toynbee M, et al.

Epilepsy & behavior : E&B 2021; (116()):107684 doi:10.1016/j.yebeh.2020.107684.

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.

Cao L, Huang X, Wang N, et al.

Translational neurodegeneration 2021; (10(1)):7 doi:10.1186/s40035-021-00231-8.

Genetic updates on paroxysmal dyskinesias.

Liao JY, Salles PA, Shuaib UA, Fernandez HH

Journal of neural transmission (Vienna, Austria : 1996) 2021; (128(4)):447-471 doi:10.1007/s00702-021-02335-x.

Electroclinical markers to differentiate between focal and generalized epilepsies.

Raga S, Rheims S, Specchio N, Wilmshurst JM

Epileptic disorders : international epilepsy journal with videotape 2021; (23(3)):437-458 doi:10.1684/epd.2021.1291.

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Miller JP, Moldenhauer HJ, Keros S, Meredith AL

Channels (Austin, Tex.) 2021; (15(1)):447-464 doi:10.1080/19336950.2021.1938852.

A case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy.

Nakayama-Kamada C, Enatsu R, Fukumura S, et al.

Nagoya journal of medical science 2021; (83(2)):361-365 doi:10.18999/nagjms.83.2.361.

Diagnosis and Management of Status Epilepticus.

Al-Faraj AO, Abdennadher M, Pang TD

Seminars in neurology 2021; (41(5)):483-492 doi:10.1055/s-0041-1733787.

Polymicrogyria in a child with KCNMA1-related channelopathy.

Graber D, Imagawa E, Miyake N, et al.

Brain & development 2022; (44(2)):173-177 doi:10.1016/j.braindev.2021.09.009.

Effect of health education on female primary school teachers' knowledge of seizure first aid: An interventional study.

Alkhotani AM, Alkhotani AM

Epilepsy & behavior : E&B 2022; (127()):108523 doi:10.1016/j.yebeh.2021.108523.

Management of status epilepticus: a narrative review.

Migdady I, Rosenthal ES, Cock HR

Anaesthesia 2022; (77 Suppl 1()):78-91 doi:10.1111/anae.15606.

Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant.

Keros S, Heim J, Hakami W, et al.

Movement disorders clinical practice 2022; (9(2)):229-235 doi:10.1002/mdc3.13394.

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.

Liang L, Liu H, Bartholdi D, et al.

Acta physiologica (Oxford, England) 2022; (235(1)):e13800 doi:10.1111/apha.13800.

Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.

Dong P, Zhang Y, Hunanyan AS, et al.

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(12)):e2200140119 doi:10.1073/pnas.2200140119.

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.

Hirsch E, French J, Scheffer IE, et al.

Epilepsia 2022; (63(6)):1475-1499 doi:10.1111/epi.17236.

Contributions of Magnetoencephalography to Understanding Mechanisms of Generalized Epilepsies: Blurring the Boundary Between Focal and Generalized Epilepsies?

Aung T, Tenney JR, Bagić AI

Frontiers in neurology 2022; (13()):831546 doi:10.3389/fneur.2022.831546.

Paediatric epilepsy and cognition.

Auvin S

Developmental medicine and child neurology 2022; (64(12)):1444-1452 doi:10.1111/dmcn.15337.

BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models.

Park SM, Roache CE, Iffland PH, et al.

eLife 2022; (11()).

Case report: A relevant misdiagnosis: Photosensitive epilepsy mimicking a blinking tic.

Burlo F, Barbi E, Carrozzi M, Zanus C

Frontiers in pediatrics 2022; (10()):918420 doi:10.3389/fped.2022.918420.

Needs of informal caregivers of people with a rare disease: a rapid review of the literature.

Mcmullan J, Lohfeld L, McKnight AJ

BMJ open 2022; (12(12)):e063263 doi:10.1136/bmjopen-2022-063263.

Unlocking the hidden burden of epilepsy in Africa: Understanding the challenges and harnessing opportunities for improved care.

Nicholas A

Health science reports 2023; (6(4)):e1220 doi:10.1002/hsr2.1220.

Evidence-based guideline on management of status epilepticus in adult intensive care unit in resource-limited settings: a review article.

Besha A, Adamu Y, Mulugeta H, et al.

Annals of medicine and surgery (2012) 2023; (85(6)):2714-2720 doi:10.1097/MS9.0000000000000625.

The impact of anti-seizure medications on psychiatric disorders among children with epilepsy: Both a challenge and an opportunity?

Datta AN

Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent 2023; (32(3)):177-184.

Nonconvulsive Status Epilepticus: A Review for Emergency Clinicians.

Long B, Koyfman A

The Journal of emergency medicine 2023; (65(4)):e259-e271 doi:10.1016/j.jemermed.2023.05.012.

BK Channelopathies and KCNMA1-Linked Disease Models.

Meredith AL

Annual review of physiology 2024; (86()):277-300 doi:10.1146/annurev-physiol-030323-042845.

Awareness of Seizure First Aid among the population in Jazan, Saudi Arabia: A survey Study.

Hakami F, Hakami KM, Zaalah SA, et al.

Heliyon 2023; (9(11)):e22197 doi:10.1016/j.heliyon.2023.e22197.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

Title not available

Kraak M, Winther CCH, Bogut L, et al.

Ugeskrift for laeger 2024; (186(13)) doi:10.61409/V10230675.

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Mastrangelo M, Manti F, Ricciardi G, et al.

European journal of pediatrics 2024; (183(9)):3665-3678 doi:10.1007/s00431-024-05657-6.

Paroxysmal movement disorders.

Magrinelli F, Bhatia KP

Handbook of clinical neurology 2024; (203()):145-156 doi:10.1016/B978-0-323-90820-7.00010-0.

Unveiling the disease progression in developmental and epileptic encephalopathies: Insights from EEG and neuropsychology.

Surdi P, Trivisano M, De Dominicis A, et al.

Epilepsia 2024; (65(11)):3279-3292 doi:10.1111/epi.18127.

KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.

Roze E, Silveira-Moriyama L, Leu-Semenescu S, et al.

Movement disorders clinical practice 2025; (12(2)):215-225 doi:10.1002/mdc3.14289.

Academic performance of pediatric epileptic patients at King Abdulaziz University Hospital.

Muthaffar OY, Bakheet H, AlKhoshi A, et al.

Journal of family medicine and primary care 2024; (13(11)):5186-5192 doi:10.4103/jfmpc.jfmpc_1006_24.

Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.

Walkowiak D, Domaradzki J

Scientific reports 2025; (15(1)):6295 doi:10.1038/s41598-025-87251-w.

'You constantly have to be switched on': A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands.

van Till SAL, Sybesma S, Bruining H, et al.

Orphanet journal of rare diseases 2025; (20(1)):89 doi:10.1186/s13023-024-03314-7.

Treatment administration during a seizure in home-settings: Time to treat (TT).

Toledo M, García Morales I, Serratosa JM, et al.

Medicina clinica 2025; (165(2)):106996 doi:10.1016/j.medcli.2025.106996.

Construction and application of in-hospital emergency nursing plan for children with epileptic seizures.

Wang H, Luo Y, Jiang C, et al.

Epilepsy & behavior : E&B 2025; (171()):110503 doi:10.1016/j.yebeh.2025.110503.

Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.

Garris J, Abbott M, Axeen E, et al.

Epilepsy currents 2025; (25(6)):378-388 doi:10.1177/15357597251323917.

Successful Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 Variant.

Ebner S, Merkevicius K, Schnell B, et al.

Neuropediatrics 2025; (56(6)):401-403 doi:10.1055/a-2668-4602.

Epileptic drop attacks: More than just atonic seizures.

Ono T, Sato K, Honda R, Otsubo H

Epilepsia open 2025; doi:10.1002/epi4.70136.

Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects.

Caputo D, Solazzi R, Castellotti B, et al.

Epilepsia 2026; (67(1)):299-314 doi:10.1111/epi.18669.

"I don't grieve as much as I used to": A qualitative study on parents of children with rare and undiagnosed conditions navigating grief in the context of uncertainty.

Hoffmann TM, Friedrich B, Lewis C

Journal of genetic counseling 2025; (34(6)):e70149 doi:10.1002/jgc4.70149.

Longitudinal analyses of electronic medical records reveal dynamic developmental trajectories for patients with SCN8A-related disorders.

Smelser K, Laird T, Hack JB, et al.

Epilepsia 2026; (67(4)):1916-1929 doi:10.1002/epi.70056.

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe.

Vigevano F, Arzimanoglou A, Auvin S, et al.

BMC pediatrics 2026; (26(1)):135.

Nocturnal Ballistic Bouts in ADCY5-Related Movement Disorder.

Nair BS, Maramattom BV

Cureus 2026; (18(1)):e101726 doi:10.7759/cureus.101726.

[Knowledge of first aid for epileptic seizures among the general population and relatives of patients with epilepsy].

Viloria-Alebesque A, Bono-Velilla Á, Bellosta-Diago E, et al.

Anales del sistema sanitario de Navarra 2026; (49(1)).

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Prentice AJ, McSalley I, Magielski JH, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.02.24.26346493.

A Revealing Case of SHQ1-Related Neurodevelopmental Disorder: Expanding the Genotypic and Phenotypic Frontier.

Ly E, Lee M

Journal of child neurology 2026; 8830738261429673 doi:10.1177/08830738261429673.

Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever.

Guo W, Song D, Cheng K, et al.

Frontiers in genetics 2026; (17()):1841342 doi:10.3389/fgene.2026.1841342.