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Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

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Migrating partial seizures of infancy : expansion of the electroclinical, radiological and pathological disease spectrum. / McTague, Amy; Appleton, Richard; Avula, Shivaram; Cross, J. Helen; King, Mary D.; Jacques, Thomas S.; Bhate, Sanjay; Cronin, Anthony; Curran, Andrew; Desurkar, Archana; Farrell, Michael A.; Hughes, Elaine; Jefferson, Rosalind; Lascelles, Karine; Livingston, John; Meyer, Esther; McLellan, Ailsa; Poduri, Annapurna; Scheffer, Ingrid E.; Spinty, Stefan; Kurian, Manju A.; Kneen, Rachel.

In: Brain, Vol. 136, No. 5, 05.2013, p. 1578-1591.

Research output: Contribution to journalArticlepeer-review

Harvard

McTague, A, Appleton, R, Avula, S, Cross, JH, King, MD, Jacques, TS, Bhate, S, Cronin, A, Curran, A, Desurkar, A, Farrell, MA, Hughes, E, Jefferson, R, Lascelles, K, Livingston, J, Meyer, E, McLellan, A, Poduri, A, Scheffer, IE, Spinty, S, Kurian, MA & Kneen, R 2013, 'Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum', Brain, vol. 136, no. 5, pp. 1578-1591. https://doi.org/10.1093/brain/awt073

APA

McTague, A., Appleton, R., Avula, S., Cross, J. H., King, M. D., Jacques, T. S., Bhate, S., Cronin, A., Curran, A., Desurkar, A., Farrell, M. A., Hughes, E., Jefferson, R., Lascelles, K., Livingston, J., Meyer, E., McLellan, A., Poduri, A., Scheffer, I. E., ... Kneen, R. (2013). Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain, 136(5), 1578-1591. https://doi.org/10.1093/brain/awt073

Vancouver

McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013 May;136(5):1578-1591. https://doi.org/10.1093/brain/awt073

Author

McTague, Amy ; Appleton, Richard ; Avula, Shivaram ; Cross, J. Helen ; King, Mary D. ; Jacques, Thomas S. ; Bhate, Sanjay ; Cronin, Anthony ; Curran, Andrew ; Desurkar, Archana ; Farrell, Michael A. ; Hughes, Elaine ; Jefferson, Rosalind ; Lascelles, Karine ; Livingston, John ; Meyer, Esther ; McLellan, Ailsa ; Poduri, Annapurna ; Scheffer, Ingrid E. ; Spinty, Stefan ; Kurian, Manju A. ; Kneen, Rachel. / Migrating partial seizures of infancy : expansion of the electroclinical, radiological and pathological disease spectrum. In: Brain. 2013 ; Vol. 136, No. 5. pp. 1578-1591.

Bibtex Download

@article{3596812b588543c49fdc5f4969991b01,
title = "Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum",
abstract = "Migrating partial seizures of infancy, also known as epilepsy of infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy with poor prognosis, presenting with focal seizures in the first year of life. A national surveillance study was undertaken in conjunction with the British Paediatric Neurology Surveillance Unit to further define the clinical, pathological and molecular genetic features of this disorder. Fourteen children with migrating partial seizures of infancy were reported during the 2 year study period (estimated prevalence 0.11 per 100 000 children). The study has revealed that migrating partial seizures of infancy is associated with an expanded spectrum of clinical features (including severe gut dysmotility and a movement disorder) and electrographic features including hypsarrhythmia (associated with infantile spasms) and burst suppression. We also report novel brain imaging findings including delayed myelination with white matter hyperintensity on brain magnetic resonance imaging in one-third of the cohort, and decreased N-acetyl aspartate on magnetic resonance spectroscopy. Putaminal atrophy (on both magnetic resonance imaging and at post-mortem) was evident in one patient. Additional neuropathological findings included bilateral hippocampal gliosis and neuronal loss in two patients who had post-mortem examinations. Within this cohort, we identified two patients with mutations in the newly discovered KCNT1 gene. Comparative genomic hybridization array, SCN1A testing and genetic testing for other currently known early infantile epileptic encephalopathy genes (including PLCB1 and SLC25A22) was non-informative for the rest of the cohort.",
keywords = "early infantile epileptic encephalopathy, migrating partial seizures in infancy, epilepsy of infancy with migrating focal seizures, malignant migrating partial epilepsy of infancy, infantile seizures, EPILEPTIC ENCEPHALOPATHY, FOCAL SEIZURES, MUTATIONS, LEVETIRACETAM, STIRIPENTOL, SLC25A22, DISORDER",
author = "Amy McTague and Richard Appleton and Shivaram Avula and Cross, {J. Helen} and King, {Mary D.} and Jacques, {Thomas S.} and Sanjay Bhate and Anthony Cronin and Andrew Curran and Archana Desurkar and Farrell, {Michael A.} and Elaine Hughes and Rosalind Jefferson and Karine Lascelles and John Livingston and Esther Meyer and Ailsa McLellan and Annapurna Poduri and Scheffer, {Ingrid E.} and Stefan Spinty and Kurian, {Manju A.} and Rachel Kneen",
year = "2013",
month = may,
doi = "10.1093/brain/awt073",
language = "English",
volume = "136",
pages = "1578--1591",
journal = "Brain",
issn = "0006-8950",
publisher = "Oxford University Press",
number = "5",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Migrating partial seizures of infancy

T2 - expansion of the electroclinical, radiological and pathological disease spectrum

AU - McTague, Amy

AU - Appleton, Richard

AU - Avula, Shivaram

AU - Cross, J. Helen

AU - King, Mary D.

AU - Jacques, Thomas S.

AU - Bhate, Sanjay

AU - Cronin, Anthony

AU - Curran, Andrew

AU - Desurkar, Archana

AU - Farrell, Michael A.

AU - Hughes, Elaine

AU - Jefferson, Rosalind

AU - Lascelles, Karine

AU - Livingston, John

AU - Meyer, Esther

AU - McLellan, Ailsa

AU - Poduri, Annapurna

AU - Scheffer, Ingrid E.

AU - Spinty, Stefan

AU - Kurian, Manju A.

AU - Kneen, Rachel

PY - 2013/5

Y1 - 2013/5

N2 - Migrating partial seizures of infancy, also known as epilepsy of infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy with poor prognosis, presenting with focal seizures in the first year of life. A national surveillance study was undertaken in conjunction with the British Paediatric Neurology Surveillance Unit to further define the clinical, pathological and molecular genetic features of this disorder. Fourteen children with migrating partial seizures of infancy were reported during the 2 year study period (estimated prevalence 0.11 per 100 000 children). The study has revealed that migrating partial seizures of infancy is associated with an expanded spectrum of clinical features (including severe gut dysmotility and a movement disorder) and electrographic features including hypsarrhythmia (associated with infantile spasms) and burst suppression. We also report novel brain imaging findings including delayed myelination with white matter hyperintensity on brain magnetic resonance imaging in one-third of the cohort, and decreased N-acetyl aspartate on magnetic resonance spectroscopy. Putaminal atrophy (on both magnetic resonance imaging and at post-mortem) was evident in one patient. Additional neuropathological findings included bilateral hippocampal gliosis and neuronal loss in two patients who had post-mortem examinations. Within this cohort, we identified two patients with mutations in the newly discovered KCNT1 gene. Comparative genomic hybridization array, SCN1A testing and genetic testing for other currently known early infantile epileptic encephalopathy genes (including PLCB1 and SLC25A22) was non-informative for the rest of the cohort.

AB - Migrating partial seizures of infancy, also known as epilepsy of infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy with poor prognosis, presenting with focal seizures in the first year of life. A national surveillance study was undertaken in conjunction with the British Paediatric Neurology Surveillance Unit to further define the clinical, pathological and molecular genetic features of this disorder. Fourteen children with migrating partial seizures of infancy were reported during the 2 year study period (estimated prevalence 0.11 per 100 000 children). The study has revealed that migrating partial seizures of infancy is associated with an expanded spectrum of clinical features (including severe gut dysmotility and a movement disorder) and electrographic features including hypsarrhythmia (associated with infantile spasms) and burst suppression. We also report novel brain imaging findings including delayed myelination with white matter hyperintensity on brain magnetic resonance imaging in one-third of the cohort, and decreased N-acetyl aspartate on magnetic resonance spectroscopy. Putaminal atrophy (on both magnetic resonance imaging and at post-mortem) was evident in one patient. Additional neuropathological findings included bilateral hippocampal gliosis and neuronal loss in two patients who had post-mortem examinations. Within this cohort, we identified two patients with mutations in the newly discovered KCNT1 gene. Comparative genomic hybridization array, SCN1A testing and genetic testing for other currently known early infantile epileptic encephalopathy genes (including PLCB1 and SLC25A22) was non-informative for the rest of the cohort.

KW - early infantile epileptic encephalopathy

KW - migrating partial seizures in infancy

KW - epilepsy of infancy with migrating focal seizures

KW - malignant migrating partial epilepsy of infancy

KW - infantile seizures

KW - EPILEPTIC ENCEPHALOPATHY

KW - FOCAL SEIZURES

KW - MUTATIONS

KW - LEVETIRACETAM

KW - STIRIPENTOL

KW - SLC25A22

KW - DISORDER

U2 - 10.1093/brain/awt073

DO - 10.1093/brain/awt073

M3 - Article

VL - 136

SP - 1578

EP - 1591

JO - Brain

JF - Brain

SN - 0006-8950

IS - 5

ER -

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