Gelastic seizures due to hypothalamic hamartoma: Rapid resolution after endoscopic tumor disconnection

Incorpora, Gemma; Pavone, Piero; Castellano-Chiodo, Danilo; Praticò, Andrea D.; Ruggieri, Martino; Pavone, Lorenzo

doi:10.1080/13554794.2012.701634

Cited by 40 publications

(43 citation statements)

References 19 publications

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“…After comparison endoscopic resection with the transcallosal approach, the authors did not find any significant difference in seizure outcome [66]. Recently, new case reports showed that endoscopic disconnection of HH resulted in rapid resolution of neurological symptomatology [67]. In fact, some cases of author echoed the advance: minimally invasive endoscopic surgery for HHs may represent an effective alternative to the open procedures.…”

Section: Endoscopymentioning

confidence: 92%

The diagnosis and management of hypothalamic hamartomas in children

Wang

2016

Chin Neurosurg Jl

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Hypothalamic hamartoma (HH) is a rare developmental malformation often characterized by gelastic seizures. Recent advances in treating HH have led to dramatic improvements. However, clinical protocol of HH is poorly understood. Since 2002, department Pediatric Neurosurgery of Xinhua Hospital has maintained a multidisciplinary clinical program to evaluate and treat children with HH. This program has provided the opportunity to investigate the management of HH. In this review, we summarize the clinical progress and propose a clear management principle for different HH patients.

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Section: Endoscopymentioning

confidence: 92%

The diagnosis and management of hypothalamic hamartomas in children

Wang

2016

Chin Neurosurg Jl

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“…Sometimes the focal crisis can secondarily generalize. 90 In rare cases are reported interictal focal epileptiform discharges, including bilateral centrotemporal spikes, 91 bilateral parietotemporal spikes, 92 and unilateral frontocentral spikes. 83,93 In the great part of cases, seizures respond very well to treatment with phenobarbital, carbamazepine, or valproate.…”

Section: Paroxysmal Dyskinesiasmentioning

confidence: 99%

PRRT2 Related Epilepsies: A Gene Review

Massimino

Portale

Sapuppo

et al. 2021

Journal of Pediatric Neurology

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PRRT2 encodes for proline-rich transmembrane protein 2 involved in synaptic vesicle fusion and presynaptic neurotransmitter release. Mutations in human PRRT2 have been related to paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with choreoathetosis, benign familial infantile epilepsies, and hemiplegic migraine. PRRT2 mutations cause neuronal hyperexcitability, which could be related to basal ganglia or cortical circuits dysfunction, leading to paroxysmal disorders. PRRT2 is expressed in the cerebral cortex, basal ganglia, and cerebellum. Approximately, 90% of pathogenic variants are inherited and 10% are de novo. Paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and ballismus. In the benign familial infantile epilepsy (BFIE), seizures are usually focal with or without generalization, usually begin between 3 and 12 months of age and remit by 2 years of age. In 30% of cases of PRRT2-associated PKD, there is an association with BFIE, and this entity is referred to as PKD with infantile convulsions (PKD/IC). PRRT2 mutations are the cause of benign family childhood epilepsy and PKD/IC. On the other hand, PRRT2 mutations do not seem to correlate with other types of epilepsy. The increasing incidence of hemiplegic migraine in families with PRRT2-associated PKD or PKD/IC suggests a common disease pathway, and it is possible to assert that BFIE, paroxysmal kinesigenic dyskinesia, and PKD with IC belong to a continuous disease spectrum of PRRT2-associated diseases.

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“…21,24,38 Reflex myoclonic seizures seem to involve more frequently the face, and especially the periorbicular and perioral muscles, as well as the upper limbs, suggesting an increased cortical excitability affecting more selectively the Rolandic area. 20,[39][40][41][42] Early-onset epileptic encephalopathy (EOEE16) are a group of rare, devastating epileptic syndromes of infancy, characterized by frequent epileptic activity and/or major interictal paroxysmal activity accompanied by rapid deterioration of brain function with progressive disturbance of cognitive, sensory, or motor functions. Early-onset seizures include myoclonic seizures, unresponsive to medication, or malignant migrating partial seizures of infancy usually start at first 6 months of life.…”

Section: Clinical Presentationmentioning

confidence: 99%

TBC1D24 and Its Related Epileptic Encephalopathy

Timpanaro

Mendola²,

Billone

et al. 2021

Journal of Pediatric Neurology

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TBC1D24, mapped to 16p13.3, encodes a protein containing a Tre2/Bub2/Cdc16 (TBC) domain, belonging to the super-family of Rab GTPase activating proteins (Rab-GAP). These proteins regulate various functions, including the regulation of the traffic of the vesicular membrane. Several TBC1D24 mutations have been related to autosomal recessive neurological disorders, including severe developmental encephalopathies with malignant early childhood epilepsy, benign epilepsy, epileptic encephalopathy, and a complex neurological syndrome characterized by deafness, onychodystrophy, bone and neurological degeneration. Mutations of TBC1D24 have also been reported in patients with nonsyndromic deafness with dominant or recessive inheritance. Mechanisms underlying TBC1D24-associated disorders and the functions of TBC1D24 products in the generation of such complex spectrum of diseases remain partly unclear and future studies are needed to clarify this aspect, in order to improve the management of seizures and for the prevention of complication (including death) of newly diagnosed patients affected by TBC1D24-related disorders.

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Gelastic seizures due to hypothalamic hamartoma: Rapid resolution after endoscopic tumor disconnection

Cited by 40 publications

References 19 publications

The diagnosis and management of hypothalamic hamartomas in children

The diagnosis and management of hypothalamic hamartomas in children

PRRT2 Related Epilepsies: A Gene Review

TBC1D24 and Its Related Epileptic Encephalopathy

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