Neuro genetics

Early diagnosis of Malan syndrome in an infant presenting with macrocephaly
Lydia Seed, Natasha G, Sarah Prentice, Prathiba Chandershekar

BMJ Case Reports CP Nov 2022, 15 (11) e249391; DOI: 10.1136/bcr-2022-249391
Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature
Asra Akbar, Sharjeel Ahmad, Sean Creeden, Huan Huynh

BMJ Case Reports CP Nov 2022, 15 (11) e250587; DOI: 10.1136/bcr-2022-250587
Importance of an echocardiogram in the evaluation of ataxia
Sarah Stokreef, Mariana Lemos, Sofia Quintas

BMJ Case Reports CP Jul 2022, 15 (7) e248691; DOI: 10.1136/bcr-2021-248691
LAMA2-related muscular dystrophy mimicking multiple sclerosis
Jacqueline Koshorek, Nara de Macena Sobreira, Shiv Saidha

BMJ Case Reports CP Jul 2022, 15 (7) e249061; DOI: 10.1136/bcr-2022-249061
Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation
Benjamin Wei-Liang Ng, Jeffrey Soon-Yit Lee, Teck-Hock Toh, Lock-Hock Ngu

BMJ Case Reports CP Jun 2022, 15 (6) e250360; DOI: 10.1136/bcr-2022-250360
Late onset AMACR deficiency with metabolic stroke-like episodes and seizures
Matthew J Tanti, Melissa J Maguire, Daniel J Warren, John Bamford

BMJ Case Reports CP Apr 2022, 15 (4) e247964; DOI: 10.1136/bcr-2021-247964
Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)
Iqra Aziz, Mark Davis, Christina Liang

BMJ Case Reports CP Mar 2022, 15 (3) e248297; DOI: 10.1136/bcr-2021-248297
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)
Birna Ásbjörnsdóttir, Otto Mølby Henriksen, Suzanne Lindquist, Lisbeth Birk Møller, Annette Sidaros, Jørgen Erik Nielsen

BMJ Case Reports CP Mar 2022, 15 (3) e248228; DOI: 10.1136/bcr-2021-248228
Novel likely pathogenic SLC20A variant in primary familial brain calcification
Rishi Sharma, Derek Stitt

BMJ Case Reports CP Mar 2022, 15 (3) e245909; DOI: 10.1136/bcr-2021-245909
Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis
Debaleena Mukherjee, Dwaipayan Bhattacharyya, Alak Pandit, Souvik Dubey

BMJ Case Reports CP Feb 2022, 15 (2) e247790; DOI: 10.1136/bcr-2021-247790

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Neuro genetics

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