Abstract
We describe the EEG findings of an infant with early-onset epileptic encephalopathy with mutation of the KCNQ2 gene and a family history of neonatal seizures. The infant presented with multifocal drug-resistant seizures with onset during the third day of life. Family history was positive for early-onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of KCQN2 from both the mother and child revealed a heterozygous cytosine-to-guanine mutation (Dedek et al., 2003). Interictal EEG showed a very discontinuous pattern which evolved towards a defined burst-suppression pattern during sleep and a multifocal, random, attenuation pattern during wakefulness. Focal, tonic seizures with head deviation, sometimes followed by asynchronous and asymmetrical clonic jerks, eyelid myoclonias, and polypnoea, were recorded. Ictal EEG was characterised by focal, low-voltage, fast activity, followed by recruiting theta rhythms and bilateral, focal, spike-wave complexes, alternatively localised to one hemisphere and subsequently diffusing to the other. ACTH therapy was introduced, resulting in a significant improvement in EEG activity and gradual reduction in seizure frequency, with cessation at age 13 weeks.
| Original language | English |
|---|---|
| Pages (from-to) | 158-165 |
| Number of pages | 8 |
| Journal | Epileptic Disorders |
| Volume | 15 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Jun 2013 |
Fingerprint
Keywords
- Burst-suppression
- Encephalopathy
- Epilepsy
- Infant
- KCNQ2
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Video/EEG findings in a KCNQ2 epileptic encephalopathy : A case report and revision of literature data. / Serino, Domenico; Specchio, Nicola; Pontrelli, Giuseppe; Vigevano, Federico; Fusco, Lucia.
In: Epileptic Disorders, Vol. 15, No. 2, 06.2013, p. 158-165.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Video/EEG findings in a KCNQ2 epileptic encephalopathy
T2 - A case report and revision of literature data
AU - Serino, Domenico
AU - Specchio, Nicola
AU - Pontrelli, Giuseppe
AU - Vigevano, Federico
AU - Fusco, Lucia
PY - 2013/6
Y1 - 2013/6
N2 - We describe the EEG findings of an infant with early-onset epileptic encephalopathy with mutation of the KCNQ2 gene and a family history of neonatal seizures. The infant presented with multifocal drug-resistant seizures with onset during the third day of life. Family history was positive for early-onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of KCQN2 from both the mother and child revealed a heterozygous cytosine-to-guanine mutation (Dedek et al., 2003). Interictal EEG showed a very discontinuous pattern which evolved towards a defined burst-suppression pattern during sleep and a multifocal, random, attenuation pattern during wakefulness. Focal, tonic seizures with head deviation, sometimes followed by asynchronous and asymmetrical clonic jerks, eyelid myoclonias, and polypnoea, were recorded. Ictal EEG was characterised by focal, low-voltage, fast activity, followed by recruiting theta rhythms and bilateral, focal, spike-wave complexes, alternatively localised to one hemisphere and subsequently diffusing to the other. ACTH therapy was introduced, resulting in a significant improvement in EEG activity and gradual reduction in seizure frequency, with cessation at age 13 weeks.
AB - We describe the EEG findings of an infant with early-onset epileptic encephalopathy with mutation of the KCNQ2 gene and a family history of neonatal seizures. The infant presented with multifocal drug-resistant seizures with onset during the third day of life. Family history was positive for early-onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of KCQN2 from both the mother and child revealed a heterozygous cytosine-to-guanine mutation (Dedek et al., 2003). Interictal EEG showed a very discontinuous pattern which evolved towards a defined burst-suppression pattern during sleep and a multifocal, random, attenuation pattern during wakefulness. Focal, tonic seizures with head deviation, sometimes followed by asynchronous and asymmetrical clonic jerks, eyelid myoclonias, and polypnoea, were recorded. Ictal EEG was characterised by focal, low-voltage, fast activity, followed by recruiting theta rhythms and bilateral, focal, spike-wave complexes, alternatively localised to one hemisphere and subsequently diffusing to the other. ACTH therapy was introduced, resulting in a significant improvement in EEG activity and gradual reduction in seizure frequency, with cessation at age 13 weeks.
KW - Burst-suppression
KW - Encephalopathy
KW - Epilepsy
KW - Infant
KW - KCNQ2
UR - http://www.scopus.com/inward/record.url?scp=84880461745&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84880461745&partnerID=8YFLogxK
U2 - 10.1684/epd.2013.0578
DO - 10.1684/epd.2013.0578
M3 - Article
C2 - 23774309
AN - SCOPUS:84880461745
VL - 15
SP - 158
EP - 165
JO - Epileptic Disorders
JF - Epileptic Disorders
SN - 1294-9361
IS - 2
ER -