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List of works by Antonia Parmeggiani

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

scientific article

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

scientific article published in March 2011

Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters ⬇️

scientific article published on October 1, 1994

Benign myoclonic epilepsy: long-term follow-up of 11 new cases ⬇️

scientific article published on November 1, 1997

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.

scientific article published on 21 December 2016

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders

scientific article published on 11 May 2019

Co-occurring malformations of cortical development and SCN1A gene mutations

scientific article published on 5 June 2014

Epilepsy and trimethylaminuria: A new case report and literature review ⬇️

scientific article published on October 20, 2010

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

scientific article published on 13 April 2015

Intravenous high-dose immunoglobulin treatment in recent onset childhood narcolepsy with cataplexy.

scientific article published on 3 September 2008

Life-threatening complications of posterior reversible encephalopathy syndrome in children.

scientific article published on 25 April 2014

Long-term follow-up of cognitive functions in patients with continuous spike-waves during sleep (CSWS).

scientific article published on 27 May 2016

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

scientific article

Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus ⬇️

scientific article published on August 1, 1998

Neurological impairment in congenital bilateral ptosis with ophthalmoplegia ⬇️

scientific article published on March 1, 1992

Neuropsychological findings in childhood narcolepsy

scientific article

Neuropsychological impairment in early-onset hydrocephalus and epilepsy with continuous spike-waves during slow-wave sleep: A case report and literature review

scientific article published on May 2013

Neuropsychological implications of adjunctive levetiracetam in childhood epilepsy

scientific article published on May 2014

Neuropsychological profile in Italian children with neurofibromatosis type 1 (NF1) and their relationships with neuroradiological data: Preliminary results.

scientific article

Prognostic factors in patients with mesial temporal lobe epilepsy

article

Prognostic factors of drug-resistant epilepsy in childhood: An Italian study.

scientific article published on 5 November 2015

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

scientific article published on 4 March 2016

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