Neuro genetics

A case of sporadic erythromelalgia presenting with small fibre neuropathy
Pavan Patel, Yan Zhang, Lynne H Unikel, Christopher Edwards

BMJ Case Reports CP Oct 2019, 12 (10) e230549; DOI: 10.1136/bcr-2019-230549
Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraine
Marianna Gabriella Rispoli, Vincenzo Di Stefano, Elide Mantuano, Maria Vittoria De Angelis

BMJ Case Reports CP Oct 2019, 12 (10) e231129; DOI: 10.1136/bcr-2019-231129
Clonidine suppression testing for pheochromocytoma in neurofibromatosis type 1
WingYee Wan, Bichle Nguyen, Sky Graybill, Jonathan Kim

BMJ Case Reports CP Jun 2019, 12 (6) e228263; DOI: 10.1136/bcr-2018-228263
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1
Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S Singer, Kristin W Barañano

BMJ Case Reports CP May 2019, 12 (5) e228782; DOI: 10.1136/bcr-2018-228782
Rapidly progressive global cerebral atrophy in the setting of anti-LGI1 encephalitis
Anudeep Yelam, Elanagan Nagarajan, Pradeep C Bollu

BMJ Case Reports CP May 2019, 12 (5) e228428; DOI: 10.1136/bcr-2018-228428
Intellectual disability in boys: mark the face!
Surya Saini, Bhanudeep Singanamala, Arushi Gahlot Saini

BMJ Case Reports CP May 2019, 12 (5) e229271; DOI: 10.1136/bcr-2019-229271
Slowly progressive distal muscle weakness: neuropathy or myopathy?
Yafit Nahari, Ahmed Abbas, Elizabeth Curtis, Saiju Jacob

BMJ Case Reports CP Apr 2019, 12 (4) e226903; DOI: 10.1136/bcr-2018-226903
Harding’s disease: an important MS mimic
Stuti Joshi, Allan G Kermode

BMJ Case Reports CP Mar 2019, 12 (3) e228337; DOI: 10.1136/bcr-2018-228337
Late-onset presentation of POLG1-associated mitochondrial disease
Bruna Meira, Rafael Roque, Miguel Pinto, André Caetano

BMJ Case Reports CP Mar 2019, 12 (3) e228482; DOI: 10.1136/bcr-2018-228482
Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome
Daphna Prat, Iris Ben Bassat Mizrachi, Vicktoria Vishnevskia-Dai

BMJ Case Reports CP Feb 2019, 12 (2) bcr-2017-224079; DOI: 10.1136/bcr-2017-224079

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Neuro genetics

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