LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs

Herbst, Saskia M.; Proepper, Christiane R.; Geis, Tobias; Borggraefe, Ingo; Hahn, Andreas; Debus, O.; Haeussler, Martin; Gersdorff, Gero von; Kurlemann, Gerhard; Ensslen, Matthias; Beaud, Nathalie; Budde, Joerg; Gilbert, Michael; Heiming, Ralf; Morgner, Rita; Philippi, Heike; Ross, Sophia; Strobl‐Wildemann, Gertrud; Muelleder, Kerstin; Vosschulte, Paul; Morris-Rosendahl, Deborah J.; Schuierer, Gerhard; Hehr, Ute

doi:10.1016/j.braindev.2015.10.001

Cited by 32 publications

(27 citation statements)

References 26 publications

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“…The hypothesis that Zika‐related microcephaly is associated with a high risk of developing early epilepsy (ie, in the first 24 months of life) was confirmed in this cohort. At the end of 24 months, nearly three‐quarters of the monitored children had epileptic seizures, an incidence similar to that described in other studies of children with extensive lissencephaly . Other recent studies of microcephaly cases associated with congenital ZIKV infections have reported either similar or lower rates .…”

Section: Discussionsupporting

confidence: 83%

“…With regard to the age groups, we hypothesized that a significant proportion of participants would present with early seizures in the first 2 months of life and develop an epileptic encephalopathy in the neonatal period, because lissencephaly, a common finding in these affected infants, is known to be an important cause of Ohtahara syndrome. 10,11,28 Nevertheless, we did not observe any record of this syndrome in this ZIKV-affected cohort, a finding consistent with previous studies. 12,13,15 The largest proportion of epileptic seizures occurred between the third and ninth months of life, with incidence remaining high until the 15th month and very few new cases after this age.…”

Section: T a B L E 3 Clinical And Eegsupporting

confidence: 92%

“…At the end of 24 months, nearly three-quarters of the monitored children had epileptic seizures, an incidence similar to that described in other studies of children with extensive lissencephaly. 11,28 Other recent studies of microcephaly cases associated with congenital ZIKV infections have reported either similar 15 or lower rates. 12,13,15,16 Two factors may underlie the difference in rates.…”

Section: T a B L E 3 Clinical And Eegmentioning

confidence: 89%

“…Of clinical significance, lissencephaly is considered to be a major contributor to pediatric epilepsy cases for which there is an early onset of seizures that are difficult to control with the use of antiseizure medications . As lissencephaly has been a common finding among the neuroimaging of patients with CZS, it is hypothesized that there may be an increased risk for the occurrence of early epilepsy in children with Zika‐related microcephaly, as suggested in the initial cases series .…”

Section: Introductionmentioning

confidence: 99%

“…8,9 Neuroimaging studies have demonstrated that common features of microcephalic children include severe diffuse atrophy of the cerebral volume (especially of the supratentorial compartment), ventriculomegaly, cerebral-subcortical punctate calcifications, and cortical developmental disorders, primarily lissencephaly. 9 Of clinical significance, lissencephaly is considered to be a major contributor to pediatric epilepsy cases 10,11 for which there is an early onset of seizures that are difficult to control with the use of antiseizure medications. 12 As lissencephaly has been a common finding among the neuroimaging of patients with CZS, 9,12 it is hypothesized that there may be an increased risk for the occurrence of early epilepsy in children with Zika-related microcephaly, as suggested in the initial cases series.…”

Section: Introductionmentioning

confidence: 99%

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Early epilepsy in children with Zika‐related microcephaly in a cohort in Recife, Brazil: Characteristics, electroencephalographic findings, and treatment response

et al. 2020

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Objective To estimate the incidence of epilepsy in children with Zika‐related microcephaly in the first 24 months of life; to characterize the associated clinical and electrographic findings; and to summarize the treatment responses. Methods We followed a cohort of children, born during the 2015‐2016 Zika virus (ZIKV) epidemic in Brazil, with congenital microcephaly and evidence of congenital ZIKV infection on neuroimaging and/or laboratory testing. Neurological assessments were performed at ≤3, 6, 12, 15, 18, 21, and 24 months of life. Serial electroencephalograms were performed over the first 24 months. Results We evaluated 91 children, of whom 48 were female. In this study sample, the cumulative incidence of epilepsy was 71.4% in the first 24 months, and the main type of seizure was infantile spasms (83.1%). The highest incidence of seizures occurred between 3 and 9 months of age, and the risk remained high until 15 months of age. The incidence of infantile spasms peaked between 4 and 7 months and was followed by an increased incidence of focal epilepsy cases after 12 months of age. Neuroimaging results were available for all children, and 100% were abnormal. Cortical abnormalities were identified in 78.4% of the 74 children evaluated by computed tomography and 100% of the 53 children evaluated by magnetic resonance imaging. Overall, only 46.1% of the 65 children with epilepsy responded to treatment. The most commonly used medication was sodium valproate with or without benzodiazepines, levetiracetam, phenobarbital, and vigabatrin. Significance Zika‐related microcephaly was associated with high risk of early epilepsy. Seizures typically began after the third month of life, usually as infantile spasms, with atypical electroencephalographic abnormalities. The seizure control rate was low. The onset of seizures in the second year was less frequent and, when it occurred, presented as focal epilepsy.

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Section: Discussionsupporting

confidence: 83%