Familial neonatal and infantile seizures: An autosomal‐dominant disorder

Zonana, Jonathan; Silvey, Kerry; Strimling, Bruce

doi:10.1002/ajmg.1320180315

Cited by 34 publications

(7 citation statements)

References 12 publications

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“…Consistent with prior cases of R448X (5), none of our patients have experienced seizures outside of infancy. Interestingly, the KCNQ2 C-terminal truncation mutant R448X has been shown to reduce the potassium current by <50% and to cause no changes in the ion channel's biophysical properties (6).…”

Section: Discussionsupporting

confidence: 91%

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The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions

Yum

Yoo

2010

J Korean Med Sci

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Neonatal seizures represent a heterogeneous group of disorders with vastly different etiologies and outcomes. Benign familial neonatal convulsions (BFNC) are a distinctive epileptic syndrome of autosomal dominant inheritance with a favorable prognosis, characterized by the occurrence of unprovoked partial or generalized clonic seizures in the neonatal period or early infancy. Recently, mutations in two potassium channel genes, KCNQ2 and KCNQ3, have been described in this disorder. In this report, we describe a family with BFNC due to a KCNQ2 mutation, the first such family to be described in the Korean population. The diagnosis of BFNC can be made based on clinical suspicion and careful history taking with special emphasis on the familial nature of the disorder. KCNQ2 mutations may be associated with BFNC in a number of different races, as has been reported in other ethnic groups.

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Section: Discussionsupporting

confidence: 91%

“…In our case, the family history given by the grandmother of the proband was key to the diagnosis, and further genetic study identified a putative causative mutation in KCNQ2, the R448X (5, 6). Consistent with prior cases of R448X (5), none of our patients have experienced seizures outside of infancy.…”

Section: Discussionmentioning

confidence: 74%

The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions

Yum

Yoo

2010

J Korean Med Sci

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“…Newborn infants with cerebral dysgenesis and neurocutaneous disorders such as incontinenti pigmenti or organoid nevus syndrome (Clancy et al, 1985~) may have unprovoked epileptic seizures. Similarly, in "benign neonatal seizures," (Plouin, 1985), familial neonatal seizures (Zonana et al, 1984) and, according to French authors "fifth-day fits" (Navalet et al, 1981), spontaneous clinicalEEG seizures may arise unexpectedly, sometimes followed by more typical forms of epilepsy in later life. These are uncommon causes of neonatal seizures, however.…”

Section: Discussionmentioning

confidence: 99%

Postnatal Epilepsy After EEG‐Confirmed Neonatal Seizures

1991

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We examined infants whose neonatal seizures were confirmed by randomly recorded ictal EEG tracings to determine the types and frequency of postnatal epilepsy (PNE)--unprovoked, recurring postnatal seizures. Perinatal and postnatal clinical and EEG variables were also examined for their relevance to PNE. Forty infants with EEG-documented neonatal seizures of diverse etiologies were studied. The 27 survivors were followed for a mean of 31 months. PNE developed in 56% (15 of 27) of the cohort. The first seizure appeared at a mean-corrected age of 12.7 months and occurred despite ongoing antiepileptic medication in 60% (9 of 15) of the group. Seizures were classified as infantile spasms or minor motor (7 patients), complex partial (4 patients), or generalized tonic-clonic (4 patients). Perinatal variables that significantly correlated with PNE included the presence of coma but not the age at seizure onset, the estimated gestational age, or Apgar scores. PNE occurred in 68% (13 of 19) of patients with moderately or markedly abnormal EEG backgrounds but in only 25% (2 of 8) without (p = 0.035). There was a strong trend for PNE to develop in patients with greater than 10 electrographic seizures per hour but in only 45% (9 of 20) of infants with fewer seizures (p = 0.058). Several postnatal variables were significantly related to PNE--the presence of cerebral palsy (CP), mental retardation (MR), CP with MR, and follow-up EEGs. PNE occurred in only 27% (3 of 11) of patients without spikes or sharp waves on postnatal EEGs performed at age 3 months but in 100% (3 of 3) of patients with spikes or sharp waves (p = 0.022).(ABSTRACT TRUNCATED AT 250 WORDS)

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“…Most seizures resolve completely by 6 months of age, but the pattern is not completely benign, with 10 to 14% developing later epilepsy. 5,6 Leppert et al 7 linked benign familial neonatal convulsions to the CMM6 and RMR6 regions on chromosome 20q. Linkage analysis from a multiplexed family containing 19 people with benign familial neonatal convulsions showed localization at two DNA regions on chromosome 20q, 7,8 but a locus on chromosome 8q was found in one family.…”

Section: Idiopathic Generalized Epilepsymentioning

confidence: 99%

Genetics of Epilepsy

Willmore

Ueda

2002

J Child Neurol

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Understanding the molecular biology of epilepsy is a challenge for modern science. Epilepsy results from alternations in fundamental mechanisms of brain and membrane function. Although an understanding of the mode of inheritance and the etiology of genetic epilepsy syndromes forms the basis for genetic counseling, the development of specific therapies will come from knowing the basic mechanisms of epilepsy. Defining the genes causing epilepsy requires an unambiguous definition of seizure phenotype, along with the stability of that trait, an unremitting clinical course, and an abundance of clinical material. This article reviews the task of defining the genetics of epilepsy and discusses genetic methodology, idiopathic generalized and localization-related partial epilepsies, neuronal migration disorders, progressive myoclonus epilepsies, molecular biology of epileptogenesis, and future research.

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Familial neonatal and infantile seizures: An autosomal‐dominant disorder

Cited by 34 publications

References 12 publications

The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions

The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions

Postnatal Epilepsy After EEG‐Confirmed Neonatal Seizures

Genetics of Epilepsy

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