The phenotype of SCN8A developmental and epileptic encephalopathy

Elena Gardella; Carla Marini; Marina Trivisano; Mark P Fitzgerald; Michael Alber; Katherine B Howell; Francesca Darra; Sabrina Siliquini; Bigna K Bölsterli; Silva Masnada; Anna Pichiecchio; Katrine M Johannesen; Birgit Jepsen; Elena Fontana; Gaia Anibaldi; Silvia Russo; Francesca Cogliati; Martino Montomoli; Nicola Specchio; Guido Rubboli; Pierangelo Veggiotti; Sandor Beniczky; Markus Wolff; Ingo Helbig; Federico Vigevano; Ingrid E Scheffer; Renzo Guerrini; Rikke S Møller

doi:10.1212/WNL.0000000000006199

The phenotype of SCN8A developmental and epileptic encephalopathy

Elena Gardella, Carla Marini, Marina Trivisano, Mark P Fitzgerald, Michael Alber, Katherine B Howell, Francesca Darra, Sabrina Siliquini, Bigna K Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido RubboliPierangelo Veggiotti, Sandor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E Scheffer, Renzo Guerrini, Rikke S Møller

Research output: Contribution to journal › Article › peer-review

Abstract

OBJECTIVE: To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).METHODS: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.RESULTS: Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (

Original language	Italian
Pages (from-to)	e1112-e1124
Journal	Neurology
Volume	91
Issue number	12
DOIs	https://doi.org/10.1212/WNL.0000000000006199
Publication status	Published - Sept 18 2018

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10.1212/WNL.0000000000006199

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Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., Darra, F., Siliquini, S., Bölsterli, B. K., Masnada, S., Pichiecchio, A., Johannesen, K. M., Jepsen, B., Fontana, E., Anibaldi, G., Russo, S., Cogliati, F., Montomoli, M., Specchio, N., ... Møller, R. S. (2018). The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology, 91(12), e1112-e1124. https://doi.org/10.1212/WNL.0000000000006199

Gardella, E, Marini, C, Trivisano, M, Fitzgerald, MP, Alber, M, Howell, KB, Darra, F, Siliquini, S, Bölsterli, BK, Masnada, S, Pichiecchio, A, Johannesen, KM, Jepsen, B, Fontana, E, Anibaldi, G, Russo, S , Cogliati, F, Montomoli, M, Specchio, N, Rubboli, G, Veggiotti, P, Beniczky, S, Wolff, M, Helbig, I, Vigevano, F, Scheffer, IE, Guerrini, R & Møller, RS 2018, 'The phenotype of SCN8A developmental and epileptic encephalopathy', Neurology, vol. 91, no. 12, pp. e1112-e1124. https://doi.org/10.1212/WNL.0000000000006199

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title = "The phenotype of SCN8A developmental and epileptic encephalopathy",

abstract = "OBJECTIVE: To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).METHODS: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.RESULTS: Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (",

author = "Elena Gardella and Carla Marini and Marina Trivisano and Fitzgerald, {Mark P} and Michael Alber and Howell, {Katherine B} and Francesca Darra and Sabrina Siliquini and B{\"o}lsterli, {Bigna K} and Silva Masnada and Anna Pichiecchio and Johannesen, {Katrine M} and Birgit Jepsen and Elena Fontana and Gaia Anibaldi and Silvia Russo and Francesca Cogliati and Martino Montomoli and Nicola Specchio and Guido Rubboli and Pierangelo Veggiotti and Sandor Beniczky and Markus Wolff and Ingo Helbig and Federico Vigevano and Scheffer, {Ingrid E} and Renzo Guerrini and M{\o}ller, {Rikke S}",

note = "{\textcopyright} 2018 American Academy of Neurology.",

year = "2018",

month = sep,

day = "18",

doi = "10.1212/WNL.0000000000006199",

language = "Italian",

volume = "91",

pages = "e1112--e1124",

journal = "Neurology",

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T1 - The phenotype of SCN8A developmental and epileptic encephalopathy

AU - Gardella, Elena

AU - Marini, Carla

AU - Trivisano, Marina

AU - Fitzgerald, Mark P

AU - Alber, Michael

AU - Howell, Katherine B

AU - Darra, Francesca

AU - Siliquini, Sabrina

AU - Bölsterli, Bigna K

AU - Masnada, Silva

AU - Pichiecchio, Anna

AU - Johannesen, Katrine M

AU - Jepsen, Birgit

AU - Fontana, Elena

AU - Anibaldi, Gaia

AU - Russo, Silvia

AU - Cogliati, Francesca

AU - Montomoli, Martino

AU - Specchio, Nicola

AU - Rubboli, Guido

AU - Veggiotti, Pierangelo

AU - Beniczky, Sandor

AU - Wolff, Markus

AU - Helbig, Ingo

AU - Vigevano, Federico

AU - Scheffer, Ingrid E

AU - Guerrini, Renzo

AU - Møller, Rikke S

PY - 2018/9/18

Y1 - 2018/9/18

N2 - OBJECTIVE: To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).METHODS: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.RESULTS: Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (

AB - OBJECTIVE: To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).METHODS: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.RESULTS: Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (

U2 - 10.1212/WNL.0000000000006199

DO - 10.1212/WNL.0000000000006199

M3 - Articolo

SN - 0028-3878

VL - 91

SP - e1112-e1124

JO - Neurology

JF - Neurology

IS - 12

ER -