Migrating Focal Seizures During Infancy: A Case Report and Pathologic Study

Fasulo, Lorena; Saucedo, Sergio Raúl Recio; Cáceres, Lidia; Solis, S.; Caraballo, Roberto

doi:10.1016/j.pediatrneurol.2011.12.004

Cited by 7 publications

(6 citation statements)

References 14 publications

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“…Neuronal loss and accompanying gliosis within the hippocampi was described in two patients (Coppola et al, 1995) microcephaly in another case (Freilich et al, 2011) but no abnormalities were found in the fourth case (Wilmshurst et al, 2000). More recently a patient reported to have multiple cortical malformations with polymicrogyria, focal cortical dysplasia and hippocampal sclerosis has been described (Fasulo et al, 2012). Neuropathology was available in two of our cases.…”

Section: Discussionmentioning

confidence: 59%

“…Finally, two patients with MPSI, whose primary seizure type was epileptic apnoea, responded to acetazolamide (Irahara et al, 2011). Bromides have been used in 12 of the 88 cases in the literature, being effective in seven (Okuda et al, 2000;Caraballo et al, 2008;Djuric et al, 2011;Fasulo et al, 2012), ineffective in two and poorly tolerated in one case (Hmaimess et al, 2006;Cilio et al, 2009). One patient developed bromoderma (Nabatame et al, 2010) despite non-toxic levels.…”

Section: Discussionmentioning

confidence: 99%

“…Interictal EEG shows multi-focal spikes and slowing and ictal EEG reveals shifting (migrating) foci of ictal onset. MPSI appears to be rare with 100 cases reported in the literature (Coppola et al, 1995(Coppola et al, , 2005(Coppola et al, , 2007Okuda et al, 2000;Wilmshurst et al, 2000;Veneselli et al, 2001;Gross-Tsur et al, 2004;Marsh et al, 2005;Hmaimess et al, 2006;Hahn et al, 2007;Caraballo et al, 2008;Jocic-Jakubi and Lagae, 2008;Cilio et al, 2009;Bedoyan et al, 2010;Nabatame et al, 2010;Carranza Rojo et al, 2011;Djuric et al, 2011;Freilich et al, 2011;Gilhuis et al, 2011;Irahara et al, 2011;Lee et al, 2012;Poduri et al, 2011Poduri et al, , 2012Sharma et al, 2011;Vendrame et al, 2011;Barcia et al, 2012;Chien et al, 2012;Fasulo et al, 2012;Merdariu et al, 2013). The details of these cases are summarized in Table 1.…”

Section: Introductionmentioning

confidence: 99%

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

McTague¹,

Appleton²,

Avula³

et al. 2013

Brain

145

165

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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.

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

McTague¹,

Appleton²,

Avula³

et al. 2013

Brain

145

165

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“…SUDEP have been reported in one patient with ADNFLE related to KCNT1 mutations and in 11 patients with EIMFS out of 152 (7%) without known mutations or with mutations in other genes (Gross-Tsur et al, 2004;Hmaimess et al, 2006;Freilich et al, 2011;Fasulo et al, 2012;McTague et al, 2013;Milh et al, 2013;Howell et al, 2015;Lim et al, 2015;Møller et al, 2015). Based on these data, the rate of SUDEP in EIFMS in general seems not far from that of Dravet syndrome and even higher than Dravet in EIFMS with KCNT1.…”

Section: Accepted Manuscript Discussionmentioning

confidence: 94%

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

Kuchenbuch

Barcia

Chémaly

et al. 2019

Brain

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Data on KCNT1 epilepsy of infancy with migrating focal seizures are heterogeneous and incomplete. Kuchenbuch et al. refine the syndrome phenotype, showing a three-step temporal sequence, poor prognosis with acquired microcephaly, high prevalence of extra-neurological manifestations and early mortality, particularly due to SUDEP. Refining the electro-clinical spectrum should facilitate early diagnosis.

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“…Okuda et al [8] described two infants diagnosed with malignant migrating partial seizures in infancy who were treated successfully with potassium bromide after conventional AEDs failed to control the seizures. More recent case reports by Fasulo et al [17] and Djuric et al [18] on the therapeutic advantages of bromides in malignant migrating partial seizures described an almost complete cessation of seizures in infants suffering from malignant migrating partial seizures.…”

Section: Discussionmentioning

confidence: 95%

A forgotten alternative: Bromides for refractory status epilepticus

Horesh

Rubinstein

Ben‐Zeev

et al. 2015

J Pediatr Intensive Care

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We present the cases of a 1-month-old infant diagnosed as having malignant migrating partial epilepsy of infancy and a 2-month-old infant with Ohtahara syndrome, who both presented with severe refractory status epilepticus and were treated with potassium bromide when all other antiepileptic drugs failed. Appropriate augmentation of the dosage of potassium bromide led to reduction in the frequency and duration of seizures in both patients. There was a notable reduction in the occurrence of epileptic seizures in both cases, with no apparent side effects. Potassium bromide was of significant benefit for seizure reduction in two infants with intractable seizures. It could be used safely and within a short period. Potassium bromide should be considered as a relatively safe therapeutic option for infants and children with severe intractable seizures when other antiepileptic drugs fail to control the seizures.

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Migrating Focal Seizures During Infancy: A Case Report and Pathologic Study

Cited by 7 publications

References 14 publications

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

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

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

A forgotten alternative: Bromides for refractory status epilepticus

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