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 & 8 others Pierangelo Veggiotti, Sandor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E Scheffer, Renzo Guerrini, Rikke S Møller

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)e1112-e1124
JournalNeurology
Volume91
Issue number12
DOIs
Publication statusPublished - Sep 18 2018

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Brain Diseases
Phenotype
Electroencephalography
Seizures
Cortical Blindness
Sialorrhea
Genetic Databases
Myoclonus
Status Epilepticus
Vision Disorders
Carbamazepine
Movement Disorders
Spasm
Phenytoin
Benzodiazepines
Anticonvulsants
Nervous System
Parturition

Cite this

Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., ... Møller, R. S. (2018). The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology, 91(12), e1112-e1124. https://doi.org/10.1212/WNL.0000000000006199

The phenotype of SCN8A developmental and epileptic encephalopathy. / Gardella, Elena; Marini, Carla; Trivisano, Marina; Fitzgerald, Mark P; Alber, Michael; Howell, Katherine B; Darra, Francesca; Siliquini, Sabrina; Bölsterli, Bigna K; Masnada, Silva; Pichiecchio, Anna; Johannesen, Katrine M; Jepsen, Birgit; Fontana, Elena; Anibaldi, Gaia; Russo, Silvia; Cogliati, Francesca; Montomoli, Martino; Specchio, Nicola; Rubboli, Guido; Veggiotti, Pierangelo; Beniczky, Sandor; Wolff, Markus; Helbig, Ingo; Vigevano, Federico; Scheffer, Ingrid E; Guerrini, Renzo; Møller, Rikke S.

In: Neurology, Vol. 91, No. 12, 18.09.2018, p. e1112-e1124.

Research output: Contribution to journalArticle

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
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB et al. The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology. 2018 Sep 18;91(12):e1112-e1124. https://doi.org/10.1212/WNL.0000000000006199
Gardella, Elena ; Marini, Carla ; Trivisano, Marina ; Fitzgerald, Mark P ; Alber, Michael ; Howell, Katherine B ; Darra, Francesca ; Siliquini, Sabrina ; Bölsterli, Bigna K ; Masnada, Silva ; Pichiecchio, Anna ; Johannesen, Katrine M ; Jepsen, Birgit ; Fontana, Elena ; Anibaldi, Gaia ; Russo, Silvia ; Cogliati, Francesca ; Montomoli, Martino ; Specchio, Nicola ; Rubboli, Guido ; Veggiotti, Pierangelo ; Beniczky, Sandor ; Wolff, Markus ; Helbig, Ingo ; Vigevano, Federico ; Scheffer, Ingrid E ; Guerrini, Renzo ; Møller, Rikke S. / The phenotype of SCN8A developmental and epileptic encephalopathy. In: Neurology. 2018 ; Vol. 91, No. 12. pp. e1112-e1124.
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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 (",
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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

N1 - © 2018 American Academy of Neurology.

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 (

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DO - 10.1212/WNL.0000000000006199

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VL - 91

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JO - Neurology

JF - Neurology

SN - 0028-3878

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