Disease: Precocious epileptic encephalopathy
- 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia
- A case of central precocious puberty due to concomitant hypothalamic hamartoma and juvenile pilocytic astrocytoma
- A clinical and genetic analysis of a child with supernumerary marker chromosome 15-caused mental retardation, intractable epilepsy, and central precocious puberty
- A familial dysmorphic condition with hypotonia, seizures and precocious puberty
- A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases
- A novel mutation in PEX 26 gene in Zellweger syndrome: a case report
- A novel technique for frame-based MR-guided laser ablation in an infant
- A review on the management of epilepsy associated with hypothalamic hamartomas
- Age-dependent increase of perineuronal nets in the human hippocampus and precocious aging in epilepsy
- Apolipoprotein epsilon 3 alleles are associated with indicators of neuronal resilience
- Berardinelli-Seip syndrome and progressive myoclonus epilepsy
- Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome
- Brief Behavioral Intervention for Disruptive Behavior in a Child with a Hypothalamic Hamartoma: A Case Report
- Central precocious puberty due to hypothalamic hamartoma in a 7-month-old infant girl
- Central precocious puberty due to hypothalamic hamartoma in Cameroon
- Central Precocious Puberty in a Child With Metachromatic Leukodystrophy
- Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration
- Choroid plexus hyperplasia and monosomy 1p36: report of new findings
- Classification of hypothalamic hamartoma and prognostic factors for surgical outcome
- Clinical and imaging features of hypothalamic hamartoma in children
- Clinical spectrum and difficulties in management of hypothalamic hamartoma in a developing country
- Cognitive and behavioral dysfunction in children with hypothalamic hamartoma and epilepsy
- Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters
- Development of central precocious puberty following cannabinoid use for paediatric epilepsy: causal or coincidence?
- Diagnosis and management of epilepsy associated with hypothalamic hamartoma: an evidence-based systematic review
- Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder
- Electroclinical pattern in the transition from West to Lennox-Gastaut syndrome
- Epilepsy in hypothalamic hamartoma: clinical and EEG features
- Epilepsy: neuroinflammation, neurodegeneration, and APOE genotype
- Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene
- Epileptic hypothalamic hamartomas impact of topography on clinical presentation and radiosurgical outcome
- Evaluation of six cases with hypothalamic hamartoma: the relationship between MRI findings and clinical features
- Few isolated neurons in hypothalamic hamartomas may cause gelastic seizures
- Gamma Knife radiosurgery for hypothalamic hamartoma preserves endocrine functions
- Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients
- Gelastic seizures and the hypothalamic hamartoma syndrome: Epileptogenesis beyond the lesion?
- Gelastic seizures misdiagnosed as gastroesophageal reflux disease
- Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
- Giant cystic hypothalamic hamartoma in an infant associated with persistent syndrome of inappropriate antidiuretic hormone secretion
- Giant hypothalamic hamartoma: case report and literature review
- Giant solid-cystic hypothalamic hamartoma. Case report
- GnRH agonist treatment in girls with precocious puberty does not compromise post-pubertal uterine size
- High Risk of Seizures and Epilepsy after Decompressive Hemicraniectomy for Malignant Middle Cerebral Artery Stroke
- High Risk of Seizures and Epilepsy after Decompressive Hemicraniectomy for Malignant Middle Cerebral Artery Stroke
- Hyperekplexia associated to precocious puberty
- Hypothalamic hamartoma
- Hypothalamic hamartoma
- Hypothalamic Hamartoma and Endocrinopathy: A Neurosurgeon's Perspective
- Hypothalamic hamartoma in an unusual case with delayed puberty
- Hypothalamic hamartoma in paediatric patients: clinical characteristics, outcomes and review of the literature
- Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity
- Hypothalamic hamartoma, gelastic epilepsy and precocious puberty
- Hypothalamic hamartoma: clinical characteristics. Electroencephalogram and brain magnetic resonance imaging in 10 patients
- Hypothalamic hamartoma: is the epileptogenic zone always hypothalamic? Arguments for independent (third stage) secondary epileptogenesis
- Hypothalamic hamartoma: MR imaging and MR spectroscopic features
- Improvement of Hypothalamic Hamartoma-Related Psychiatric Disorder After Stereotactic Laser Ablation: Case Report and Review of Literature
- Intellectual functioning in presurgical patients with hypothalamic hamartoma and refractory epilepsy
- Intraoperative use of high-field MRI in hypothalamic hamartomas associated with epilepsy: clinico-pathological presentation of five adult patients
- KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
- Long term outcome after surgical treatment for hypothalamic hamartoma
- Loss of Christianson Syndrome Na<sup>+</sup>/H<sup>+</sup> Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons
- Medical management and antiepileptic drugs in hypothalamic hamartoma
- Minimally invasive magnetic resonance imaging-guided stereotactic radiofrequency thermocoagulation for epileptogenic hypothalamic hamartomas
- Morphogenesis timing of genetically programmed brain malformations in relation to epilepsy
- Mowat-Wilson syndrome
- MRI-guided stereotactic radiofrequency thermocoagulation for 100 hypothalamic hamartomas
- Multimodal Approach for the Treatment of Complex Hypothalamic Hamartomas
- Neurologic and motor dysfunctions in APP transgenic mice
- Neuropsychiatric features of the coexistence of epilepsy and psychogenic nonepileptic seizures
- Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series
- Neurovascular-neuroenergetic coupling axis in the brain: master regulation by nitric oxide and consequences in aging and neurodegeneration
- Pathological features of neonatal EEG in preterm babies born before 30 weeks of gestationnal age
- Pineal gland cysts--an overview
- Precocious puberty as a consequence of anti-NMDA receptor encephalitis in children
- Precocious puberty in an epileptic child treated with valproate
- Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described
- Precocious puberty with hypothalamic hamartoma and non classical form of congenital adrenal hyperplasia. Report of two cases
- Pure endoscopic management of epileptogenic hypothalamic hamartomas
- Radiosurgery for hypothalamic hamartomas
- Radiosurgery of hypothalamic hamartomas
- Rasmussen's encephalitis and central precocious puberty. Neuroendocrinological characterization of three cases
- Reduced steroidogenesis in patients with PCDH19-female limited epilepsy
- Refractory temporal epilepsy. An analysis of 33 cases submitted to surgery
- Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children
- Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study
- Seizures presenting as incessant laughter: a case of gelastic epilepsy
- Selective surgical mamillo-thalamic tract disconnection in hypothalamic hamartoma results in complete disappearance of gelastic seizures
- Status epilepticus revealing syphilitic meningoencephalitis
- Stereotactic radiosurgery for epilepsy related to hypothalamic hamartoma
- Stereotactic radiosurgery in treatment of patients with hypothalamic hamartomas
- Structural CNS abnormalities responsible for coincidental occurrence of endocrine disorders, epilepsy and psychoneurologic disorders in children and adolescents
- Successful treatment of hyperphagia by resection of a hypothalamic hamartoma
- Surgical approaches to hypothalamic hamartomas
- The benign spectrum of hypothalamic hamartomas: infrequent epilepsy and normal cognition in patients presenting with central precocious puberty
- The gelastic seizures-hypothalamic hamartoma syndrome: facts, hypotheses, and perspectives
- The syndrome gelastic seizures-hypothalamic hamartoma: severe, potentially reversible encephalopathy
- Timing in neural maturation: arrest, delay, precociousness, and temporal determination of malformations
- Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister-Hall syndrome
- Transcallosal resection of hypothalamic hamartoma for gelastic epilepsy
- Unkempt is negatively regulated by mTOR and uncouples neuronal differentiation from growth control