TY - JOUR
T1 - The syndrome gelastic seizures-hypothalamic hamartoma
T2 - Severe, potentially reversible encephalopathy
AU - Striano, Salvatore
AU - Striano, Pasquale
AU - Coppola, Antonietta
AU - Romanelli, Pantaleo
PY - 2009/5
Y1 - 2009/5
N2 - Hypothalamic hamartoma (HH) is the pathologic hallmark of a spectrum of epileptic conditions, ranging from a mild form of epilepsy, whose seizures are an urge to laugh without cognitive defects, to the fully developed syndrome of early onset gelastic seizures (GS) associated with precocious puberty and the evolution to a catastrophic epilepsy syndrome. However, a refractory focal or generalized epilepsy develops during the clinical course in nearly all cases. Neurophysiologic and neuroimaging studies have assessed the role of HH in the generation of the GS as well as in the process of secondary epileptogenesis. Electrophysiologic properties of small -aminobutyric acid (GABA)ergic, spontaneously firing neurons might explain the intrinsic epileptogenicity of HH. Surgical ablation of the HH can reverse both epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery can be useful and safe approaches for treatment, in particular of small HH.
AB - Hypothalamic hamartoma (HH) is the pathologic hallmark of a spectrum of epileptic conditions, ranging from a mild form of epilepsy, whose seizures are an urge to laugh without cognitive defects, to the fully developed syndrome of early onset gelastic seizures (GS) associated with precocious puberty and the evolution to a catastrophic epilepsy syndrome. However, a refractory focal or generalized epilepsy develops during the clinical course in nearly all cases. Neurophysiologic and neuroimaging studies have assessed the role of HH in the generation of the GS as well as in the process of secondary epileptogenesis. Electrophysiologic properties of small -aminobutyric acid (GABA)ergic, spontaneously firing neurons might explain the intrinsic epileptogenicity of HH. Surgical ablation of the HH can reverse both epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery can be useful and safe approaches for treatment, in particular of small HH.
KW - Epilepsy
KW - Gelastic
KW - Hamartoma
KW - Hypothalamic
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U2 - 10.1111/j.1528-1167.2009.02125.x
DO - 10.1111/j.1528-1167.2009.02125.x
M3 - Article
C2 - 19469851
AN - SCOPUS:65549116470
VL - 50
SP - 62
EP - 65
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - SUPPL. 5
ER -